ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- criteria provided, single submitter
- Submissions:
- 2
- First in ClinVar:
- Aug 3, 2015
- Most recent Submission:
- Aug 29, 2022
- Last evaluated:
- Mar 2, 2015
- Accession:
- VCV000183686.3
- Variation ID:
- 183686
- Description:
- single nucleotide variant
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NM_000245.4(MET):c.2521T>G (p.Phe841Val)
- Allele ID
- 181585
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 7q31.2
- Genomic location
- 7: 116763206 (GRCh38) GRCh38 UCSC
- 7: 116403260 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000245.4:c.2521T>G MANE Select NP_000236.2:p.Phe841Val missense NM_001127500.3:c.2575T>G NP_001120972.1:p.Phe859Val missense NM_001324401.3:c.2521T>G NP_001311330.1:p.Phe841Val missense NM_001324402.2:c.1231T>G NP_001311331.1:p.Phe411Val missense NC_000007.14:g.116763206T>G NC_000007.13:g.116403260T>G NG_008996.1:g.95802T>G LRG_662:g.95802T>G P08581:p.Phe841Val - Protein change
- F841V, F859V, F411V
- Other names
- -
- Canonical SPDI
- NC_000007.14:116763205:T:G
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA212644
- UniProtKB: P08581#VAR_075757
- OMIM: 164860.0012
- dbSNP: rs794728016
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | criteria provided, single submitter | Mar 2, 2015 | RCV000185580.2 | |
| Pathogenic | 1 | no assertion criteria provided | May 4, 2015 | RCV000202585.4 |
Help
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help | TS score Help | Within gene | All | |||
| MET | No evidence available | No evidence available |
GRCh38 GRCh37 |
3135 | 3184 | |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Mar 02, 2015)
|
criteria provided, single submitter
Method: research
|
Affected status: yes
Allele origin:
germline
|
School of Biological Sciences, University of the Punjab
Study: A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss
Accession: SCV000211990.2 First in ClinVar: Jul 12, 2015 Last updated: Aug 03, 2015 |
Clinical Features:
Severe hearing loss (present)
Age: 5-60 years
Sex: mixed
Ethnicity/Population group: Asian
Geographic origin: Pakistan
|
|
|
Pathogenic
(May 04, 2015)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000257538.4
First in ClinVar: Dec 21, 2015 Last updated: Aug 29, 2022 |
Comment on evidence:
In 9 affected members of a large consanguineous Pakistani family (HLGM17) segregating autosomal recessive nonsyndromic deafness (DFNB97; 616705), Mujtaba et al. (2015) identified homozygosity for … (more)
In 9 affected members of a large consanguineous Pakistani family (HLGM17) segregating autosomal recessive nonsyndromic deafness (DFNB97; 616705), Mujtaba et al. (2015) identified homozygosity for a c.2521T-G transversion (c.2521T-G, NM_000245.2) in exon 11 of the MET gene, resulting in a phe841-to-val (F841V) substitution at a highly conserved residue within the IPT4 domain. The mutation segregated fully with disease in the family and was not found in 400 Pakistani controls or in the Exome Variant Server, ExAC, or 1000 Genomes Project databases. The authors noted that because only exonic regions were analyzed, it was possible that F841V represents a variant in linkage disequilibrium with the true pathogenic allele. (less)
|
Functional evidence
Help| 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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss. | Mujtaba G | Journal of medical genetics | 2015 | PMID: 25941349 |
Text-mined citations for rs794728016...
HelpThese 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 Jan 07, 2023