NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: May 28, 2019
Review status:: criteria provided, conflicting classifications

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:: RCV000505525.5

Allele description [Variation Report for NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)]

NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)

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.511G>A (p.Ala171Thr)

HGVS:

NC_000013.11:g.20189071C>T
NG_008358.1:g.8905G>A
NM_004004.6:c.511G>AMANE SELECT
NP_003995.2:p.Ala171Thr
LRG_1350t1:c.511G>A
LRG_1350:g.8905G>A
LRG_1350p1:p.Ala171Thr
NC_000013.10:g.20763210C>T
NM_004004.5:c.511G>A
c.511G>A

Protein change:

A171T

Links:

dbSNP: rs201004645

NCBI 1000 Genomes Browser:

rs201004645

Molecular consequence:

NM_004004.6:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Taxonomy Links for Protein (Select 2462558646) (1)
Taxonomy
Gene Links for GEO Profiles (Select 109413325) (1)
Gene
CLDN15 claudin 15 [Homo sapiens]
CLDN15 claudin 15 [Homo sapiens]
Gene ID:24146

Gene
Gene Links for GEO Profiles (Select 109422494) (2)
Gene
Gene Links for GEO Profiles (Select 127742616) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000599757	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Uncertain significance (May 9, 2017)	germline	clinical testing	Citation Link,
SCV000795427	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 14, 2017)	unknown	clinical testing	PubMed (11) [See all records that cite these PMIDs] 25555641, 25587757, 26346709, 21777984, 17666888, 17357124, 11438992, 21287563, 12172394, 15365987, 15603707 Citation Link,
SCV001138906	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001463362	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 16, 2020)	germline	clinical testing

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Summary from all submissions

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

Citations

PubMed

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

Kashef A, Nikzat N, Bazzazadegan N, Fattahi Z, Sabbagh-Kermani F, Taghdiri M, Azadeh B, Mojahedi F, Khoshaeen A, Habibi H, Najmabadi H, Kahrizi K.

Int J Pediatr Otorhinolaryngol. 2015 Feb;79(2):136-8. doi: 10.1016/j.ijporl.2014.11.024. Epub 2014 Dec 3.

PubMed [citation]

PMID:: 25555641

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.

Nishio SY, Hayashi Y, Watanabe M, Usami S.

Genet Test Mol Biomarkers. 2015 Apr;19(4):209-17. doi: 10.1089/gtmb.2014.0252. Epub 2015 Jan 14.

PubMed [citation]

PMID:: 25587757
PMCID:: PMC4394162

See all PubMed Citations (11)

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000599757.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

From Counsyl, SCV000795427.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

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

From Mendelics, SCV001138906.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

From Natera, Inc., SCV001463362.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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