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NM_000245.4(MET):c.2521T>G (p.Phe841Val) AND Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 2, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000185580.2

Allele description [Variation Report for NM_000245.4(MET):c.2521T>G (p.Phe841Val)]

NM_000245.4(MET):c.2521T>G (p.Phe841Val)

Gene:
MET:MET proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000245.4(MET):c.2521T>G (p.Phe841Val)
HGVS:
  • NC_000007.14:g.116763206T>G
  • NG_008996.1:g.95802T>G
  • NM_000245.4:c.2521T>GMANE SELECT
  • NM_001127500.3:c.2575T>G
  • NM_001324401.3:c.2521T>G
  • NM_001324402.2:c.1231T>G
  • NP_000236.2:p.Phe841Val
  • NP_001120972.1:p.Phe859Val
  • NP_001311330.1:p.Phe841Val
  • NP_001311331.1:p.Phe411Val
  • LRG_662:g.95802T>G
  • NC_000007.13:g.116403260T>G
  • NM_000245.2:c.2521T>G
  • P08581:p.Phe841Val
Protein change:
F411V; PHE841VAL
Links:
UniProtKB: P08581#VAR_075757; OMIM: 164860.0012; dbSNP: rs794728016
NCBI 1000 Genomes Browser:
rs794728016
Molecular consequence:
  • NM_000245.4:c.2521T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127500.3:c.2575T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324401.3:c.2521T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324402.2:c.1231T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
Identifiers:
MedGen: CN043650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211990School of Biological Sciences, University of the Punjab - A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Mar 2, 2015) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiangermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.

Mujtaba G, Schultz JM, Imtiaz A, Morell RJ, Friedman TB, Naz S.

J Med Genet. 2015 Aug;52(8):548-52. doi: 10.1136/jmedgenet-2015-103023. Epub 2015 May 4.

PubMed [citation]
PMID:
25941349
PMCID:
PMC4529444

Details of each submission

From School of Biological Sciences, University of the Punjab - A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss, SCV000211990.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asiannot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 7, 2023