NM_004004.6(GJB2):c.158G>T (p.Cys53Phe) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000785599.2

Allele description [Variation Report for NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)]

NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)

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.158G>T (p.Cys53Phe)

HGVS:

NC_000013.11:g.20189424C>A
NG_008358.1:g.8552G>T
NM_004004.6:c.158G>TMANE SELECT
NP_003995.2:p.Cys53Phe
LRG_1350t1:c.158G>T
LRG_1350:g.8552G>T
LRG_1350p1:p.Cys53Phe
NC_000013.10:g.20763563C>A

Protein change:

C53F

Links:

dbSNP: rs587783645

NCBI 1000 Genomes Browser:

rs587783645

Molecular consequence:

NM_004004.6:c.158G>T - missense variant - [Sequence Ontology: SO:0001583]

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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Cdh17 cadherin 17 [Mus musculus]
Cdh17 cadherin 17 [Mus musculus]
Gene ID:12557

Gene
12557[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000924175	Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000924175

Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

unknown

research

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

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	1	not provided	not provided	not provided	research

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 Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine, SCV000924175.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Dec 24, 2023

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