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NM_002317.7(LOX):c.760G>A (p.Val254Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 24, 2018)
Last evaluated:
Jan 1, 2018
Accession:
VCV000599283.2
Variation ID:
599283
Description:
single nucleotide variant
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NM_002317.7(LOX):c.760G>A (p.Val254Ile)

Allele ID
590545
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.1
Genomic location
5: 122075522 (GRCh38) GRCh38 UCSC
5: 121411217 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.122075522C>T
NC_000005.9:g.121411217C>T
NG_008722.1:g.7839G>A
... more HGVS
Protein change
V254I, V24I
Other names
-
Canonical SPDI
NC_000005.10:122075521:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00009
Links
dbSNP: rs575190694
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 1, 2018 RCV000735872.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LOX - - GRCh38
GRCh37
53 115
SRFBP1 - - GRCh38
GRCh37
- 62

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 01, 2018)
criteria provided, single submitter
Method: research
Interphalangeal joint contracture of finger
Emphysema
Pleural effusion
Abnormal facial shape
Increased number of skin folds
Allele origin: germline
Diagnostics Division,CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
Accession: SCV000864078.1
Submitted: (Dec 24, 2018)
Comment:
Missense variant
Evidence details

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs575190694...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 20, 2021