ClinVar Genomic variation as it relates to human health
NM_004318.4(ASPH):c.2146G>A (p.Val716Met)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_004318.4(ASPH):c.2146G>A (p.Val716Met)
Variation ID: 3130439 Accession: VCV003130439.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q12.3 8: 61503490 (GRCh38) [ NCBI UCSC ] 8: 62416049 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 1, 2024 May 1, 2024 Jan 19, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004318.4:c.2146G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004309.2:p.Val716Met missense NM_001164750.2:c.2059G>A NP_001158222.1:p.Val687Met missense NM_001413844.1:c.2227G>A NP_001400773.1:p.Val743Met missense NM_001413845.1:c.2191G>A NP_001400774.1:p.Val731Met missense NM_001413846.1:c.2188G>A NP_001400775.1:p.Val730Met missense NM_001413847.1:c.2170G>A NP_001400776.1:p.Val724Met missense NM_001413848.1:c.2149G>A NP_001400777.1:p.Val717Met missense NM_001413849.1:c.2146G>A NP_001400778.1:p.Val716Met missense NM_001413850.1:c.2143G>A NP_001400779.1:p.Val715Met missense NM_001413851.1:c.2143G>A NP_001400780.1:p.Val715Met missense NM_001413852.1:c.2134G>A NP_001400781.1:p.Val712Met missense NM_001413853.1:c.2131G>A NP_001400782.1:p.Val711Met missense NM_001413854.1:c.2104G>A NP_001400783.1:p.Val702Met missense NM_001413855.1:c.2104G>A NP_001400784.1:p.Val702Met missense NM_001413856.1:c.2104G>A NP_001400785.1:p.Val702Met missense NM_001413857.1:c.2101G>A NP_001400786.1:p.Val701Met missense NM_001413858.1:c.2098G>A NP_001400787.1:p.Val700Met missense NM_001413859.1:c.2098G>A NP_001400788.1:p.Val700Met missense NM_001413860.1:c.2089G>A NP_001400789.1:p.Val697Met missense NM_001413861.1:c.2086G>A NP_001400790.1:p.Val696Met missense NM_001413862.1:c.2071G>A NP_001400791.1:p.Val691Met missense NM_001413863.1:c.2062G>A NP_001400792.1:p.Val688Met missense NM_001413864.1:c.2059G>A NP_001400793.1:p.Val687Met missense NM_001413865.1:c.2059G>A NP_001400794.1:p.Val687Met missense NM_001413866.1:c.2059G>A NP_001400795.1:p.Val687Met missense NM_001413867.1:c.2047G>A NP_001400796.1:p.Val683Met missense NM_001413868.1:c.2047G>A NP_001400797.1:p.Val683Met missense NM_001413869.1:c.2044G>A NP_001400798.1:p.Val682Met missense NM_001413870.1:c.2041G>A NP_001400799.1:p.Val681Met missense NM_001413871.1:c.2017G>A NP_001400800.1:p.Val673Met missense NM_001413872.1:c.2017G>A NP_001400801.1:p.Val673Met missense NM_001413873.1:c.2014G>A NP_001400802.1:p.Val672Met missense NM_001413874.1:c.2005G>A NP_001400803.1:p.Val669Met missense NM_001413875.1:c.2002G>A NP_001400804.1:p.Val668Met missense NM_001413876.1:c.1975G>A NP_001400805.1:p.Val659Met missense NM_001413877.1:c.1975G>A NP_001400806.1:p.Val659Met missense NM_001413878.1:c.1972G>A NP_001400807.1:p.Val658Met missense NM_001413879.1:c.1969G>A NP_001400808.1:p.Val657Met missense NM_001413880.1:c.1960G>A NP_001400809.1:p.Val654Met missense NM_001413881.1:c.1960G>A NP_001400810.1:p.Val654Met missense NM_001413882.1:c.1957G>A NP_001400811.1:p.Val653Met missense NM_001413883.1:c.1942G>A NP_001400812.1:p.Val648Met missense NM_001413884.1:c.1939G>A NP_001400813.1:p.Val647Met missense NM_001413885.1:c.1930G>A NP_001400814.1:p.Val644Met missense NM_001413886.1:c.1918G>A NP_001400815.1:p.Val640Met missense NM_001413887.1:c.1918G>A NP_001400816.1:p.Val640Met missense NM_001413888.1:c.1915G>A NP_001400817.1:p.Val639Met missense NM_001413889.1:c.1903G>A NP_001400818.1:p.Val635Met missense NM_001413890.1:c.1897G>A NP_001400819.1:p.Val633Met missense NM_001413891.1:c.2012G>A NP_001400820.1:p.Gly671Asp missense NM_001413893.1:c.2009G>A NP_001400822.1:p.Gly670Asp missense NM_001413894.1:c.1885G>A NP_001400823.1:p.Val629Met missense NM_001413895.1:c.1840G>A NP_001400824.1:p.Val614Met missense NM_001413896.1:c.1955G>A NP_001400825.1:p.Gly652Asp missense NM_001413897.1:c.1883G>A NP_001400826.1:p.Gly628Asp missense NM_001413898.1:c.1747G>A NP_001400827.1:p.Val583Met missense NM_001413899.1:c.1669G>A NP_001400828.1:p.Val557Met missense NM_001413900.1:c.1660G>A NP_001400829.1:p.Val554Met missense NM_001413901.1:c.1492G>A NP_001400830.1:p.Val498Met missense NM_001413909.1:c.1534G>A NP_001400838.1:p.Val512Met missense NC_000008.11:g.61503490C>T NC_000008.10:g.62416049C>T NG_013210.1:g.216151G>A - Protein change
- G652D, V498M, V583M, V629M, V640M, V668M, V673M, V682M, V687M, V691M, V701M, V712M, V743M, V554M, V614M, V647M, V653M, V654M, V657M, V717M, V730M, G670D, G671D, V512M, V644M, V658M, V659M, V683M, V688M, V696M, V724M, V731M, G628D, V557M, V633M, V635M, V639M, V648M, V669M, V672M, V681M, V697M, V700M, V702M, V711M, V715M, V716M
- Other names
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- Canonical SPDI
- NC_000008.11:61503489:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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ASPH | - | - |
GRCh38 GRCh37 |
170 | 212 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Jan 19, 2024 | RCV004420854.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Jan 19, 2024)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004910650.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.2146G>A (p.V716M) alteration is located in exon 25 (coding exon 25) of the ASPH gene. This alteration results from a G to A substitution … (more)
The c.2146G>A (p.V716M) alteration is located in exon 25 (coding exon 25) of the ASPH gene. This alteration results from a G to A substitution at nucleotide position 2146, causing the valine (V) at amino acid position 716 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.