NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Uncertain significance (4 submissions)
Last evaluated:: Jun 13, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000505533.4

Allele description [Variation Report for NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)]

NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)

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.445G>A (p.Ala149Thr)

HGVS:

NC_000013.11:g.20189137C>T
NG_008358.1:g.8839G>A
NM_004004.6:c.445G>AMANE SELECT
NP_003995.2:p.Ala149Thr
LRG_1350t1:c.445G>A
LRG_1350:g.8839G>A
LRG_1350p1:p.Ala149Thr
NC_000013.10:g.20763276C>T
NM_004004.5:c.445G>A
c.445G>A

Protein change:

A149T

Links:

dbSNP: rs111033225

NCBI 1000 Genomes Browser:

rs111033225

Molecular consequence:

NM_004004.6:c.445G>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

Recent activity

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unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|7020106|dbj|BAA90996.1|

Protein
Homo sapiens 5-hydroxytryptamine receptor 7 pseudogene 1 (HTR7P1), non-coding RN...
Homo sapiens 5-hydroxytryptamine receptor 7 pseudogene 1 (HTR7P1), non-coding RNA
gi|219881534|ref|NR_002774.3|

Nucleotide
DKFZp434I0618_s1 434 (synonym: htes3) Homo sapiens cDNA clone DKFZp434I0618, mRN...
DKFZp434I0618_s1 434 (synonym: htes3) Homo sapiens cDNA clone DKFZp434I0618, mRNA sequence
gi|4728198|gnl|dbEST|2475916|emb|AL 9.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000599752	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,
SCV000792260	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jun 13, 2017)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 25012701, 15146474, 22567861, 23073770, 10982180 Citation Link,
SCV002086045	Natera, Inc.	no assertion criteria provided	Uncertain significance (Oct 15, 2020)	germline	clinical testing
SCV003841223	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	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
not provided	germline	no	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.

Zeinali S, Davoudi-Dehaghani E, Azadmehr S, DabbaghBagheri S, Bagherian H, Jamali M, Zafarghandimotlagh F, Masoodifard M, BandehiSarhaddi A, Rejali L, Sahebi S.

Eur Arch Otorhinolaryngol. 2015 Sep;272(9):2255-9. doi: 10.1007/s00405-014-3171-7. Epub 2014 Jul 11.

PubMed [citation]

PMID:: 25012701

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.

Tóth T, Kupka S, Haack B, Riemann K, Braun S, Fazakas F, Zenner HP, Muszbek L, Blin N, Pfister M, Sziklai I.

Hum Mutat. 2004 Jun;23(6):631-2.

PubMed [citation]

PMID:: 15146474

See all PubMed Citations (6)

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000599752.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	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
2	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000792260.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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., SCV002086045.1

#	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

From Baylor Genetics, SCV003841223.1

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

#	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

Last Updated: Mar 10, 2024

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