NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) AND Ear malformation

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 10, 2021
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:: RCV001814083.3

Allele description [Variation Report for NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)]

NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)

HGVS:

NC_000013.11:g.20189071_20189074dup
NG_008358.1:g.8902_8905dup
NM_004004.6:c.508_511dupMANE SELECT
NP_003995.2:p.Ala171fs
LRG_1350t1:c.508_511dup
LRG_1350:g.8902_8905dup
LRG_1350p1:p.Ala171fs
NC_000013.10:g.20763209_20763210insCGTT
NC_000013.10:g.20763210_20763213dup
NC_000013.11:g.20189070_20189071insCGTT
NM_004004.5:c.508_511dupAACG
NM_004004.6:c.508_511dup
NM_004004.6:c.508_511dupAACGMANE SELECT
p.Ala171Glufs*40

Protein change:

A171fs

Links:

dbSNP: rs773528125

NCBI 1000 Genomes Browser:

rs773528125

Molecular consequence:

NM_004004.6:c.508_511dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Ear malformation
Synonyms:: CUP EAR; Abnormality of the ear
Identifiers:: MONDO: MONDO:0007500; MedGen: C0266589; OMIM: 128600; Human Phenotype Ontology: HP:0000598

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001755334	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001755334

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 10, 2021)

germline

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	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755334.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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