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NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) AND Nonsyndromic genetic hearing loss

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 20, 2018
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000710346.2

Allele description [Variation Report for NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)]

NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)

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.674C>T (p.Pro225Leu)
HGVS:
  • NC_000013.11:g.20188908G>A
  • NG_008358.1:g.9068C>T
  • NM_004004.6:c.674C>TMANE SELECT
  • NP_003995.2:p.Pro225Leu
  • LRG_1350t1:c.674C>T
  • LRG_1350:g.9068C>T
  • LRG_1350p1:p.Pro225Leu
  • NC_000013.10:g.20763047G>A
  • NM_004004.5:c.674C>T
Protein change:
P225L
Links:
dbSNP: rs1555341782
NCBI 1000 Genomes Browser:
rs1555341782
Molecular consequence:
  • NM_004004.6:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nonsyndromic genetic hearing loss
Synonyms:
Nonsyndromic hearing loss and deafness; Non-syndromic genetic deafness; Nonsyndromic genetic deafness
Identifiers:
MONDO: MONDO:0019497; MedGen: C5680182; Orphanet: 87884

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840543ClinGen Hearing Loss Variant Curation Expert Panel
reviewed by expert panel

(ClinGen HL ACMG Specifications v1)		Uncertain significance
(Sep 20, 2018) 		germlinecuration

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children.

Hayashi C, Funayama M, Li Y, Kamiya K, Kawano A, Suzuki M, Hattori N, Ikeda K.

Int J Pediatr Otorhinolaryngol. 2011 Feb;75(2):211-4. doi: 10.1016/j.ijporl.2010.11.001. Epub 2010 Nov 26.

PubMed [citation]
PMID:
21112098

Details of each submission

From ClinGen Hearing Loss Variant Curation Expert Panel, SCV000840543.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The p.Pro225Leu variant in GJB2 is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org) (PM2). This variant has been detected in 1 patient with hearing loss in trans with pathogenic or suspected-pathogenic variants (PM3; PMID:21112098). In summary, this variant meets criteria to be classified as a variant of uncertain clinical significance for autosomal recessive nonsyndromic hearing loss based on the ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2, PM3.

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

Last Updated: Dec 24, 2023