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NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000210858.9

Allele description [Variation Report for NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)]

NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)

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.224G>A (p.Arg75Gln)
HGVS:
  • NC_000013.11:g.20189358C>T
  • NG_008358.1:g.8618G>A
  • NM_004004.6:c.224G>AMANE SELECT
  • NP_003995.2:p.Arg75Gln
  • NP_003995.2:p.Arg75Gln
  • LRG_1350t1:c.224G>A
  • LRG_1350:g.8618G>A
  • LRG_1350p1:p.Arg75Gln
  • NC_000013.10:g.20763497C>T
  • NM_004004.5:c.224G>A
  • P29033:p.Arg75Gln
Protein change:
R75Q; ARG75GLN
Links:
UniProtKB: P29033#VAR_015936; OMIM: 121011.0026; dbSNP: rs28931593
NCBI 1000 Genomes Browser:
rs28931593
Molecular consequence:
  • NM_004004.6:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
Synonyms:
Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267102Institut Pasteur du Maroc
no assertion criteria provided
Pathogenic
(Apr 1, 2016) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
inheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institut Pasteur du Maroc, SCV000267102.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

Pathogenic

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 30, 2024