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NM_004004.6(GJB2):c.265C>T (p.Leu89Phe) AND Nonsyndromic Deafness

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2017
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:
RCV000499451.1

Allele description [Variation Report for NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)]

NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)
HGVS:
  • NC_000013.11:g.20189317G>A
  • NG_008358.1:g.8659C>T
  • NM_004004.6:c.265C>TMANE SELECT
  • NP_003995.2:p.Leu89Phe
  • LRG_1350t1:c.265C>T
  • LRG_1350:g.8659C>T
  • LRG_1350p1:p.Leu89Phe
  • NC_000013.10:g.20763456G>A
  • NM_004004.5:c.265C>T
Protein change:
L89F
Links:
dbSNP: rs765921870
NCBI 1000 Genomes Browser:
rs765921870
Molecular consequence:
  • NM_004004.6:c.265C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nonsyndromic Deafness
Synonyms:
Non-syndromic hearing loss; Nonsyndromic hearing loss
Identifiers:
MeSH: C580334; MedGen: C3711374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000590937Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South Asiangermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals, SCV000590937.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South Asiannot providednot providednot providedclinical testing PubMed (1)

Description

To the best of our knowledge, this variant has not previously been reported in gene-specific databases or the literature; but has been seen at low frequency in individuals of South Asian ancestry reported in population databases (gnomAD, ExAC). In silico analyses all predict an impact on the protein. The amino acid immediately adjacent to this variant is also a leucine; as reported extensively in the literature, mutation of this amnio acid to proline (p.Leu90Pro) is pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024