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NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) AND Ichthyosis, hystrix-like, with hearing loss

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV000274859.5

Allele description [Variation Report for NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)]

NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)

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.249C>G (p.Phe83Leu)
HGVS:
  • NC_000013.11:g.20189333G>C
  • NG_008358.1:g.8643C>G
  • NM_004004.6:c.249C>GMANE SELECT
  • NP_003995.2:p.Phe83Leu
  • LRG_1350t1:c.249C>G
  • LRG_1350:g.8643C>G
  • LRG_1350p1:p.Phe83Leu
  • NC_000013.10:g.20763472G>C
  • NM_004004.5:c.249C>G
  • P29033:p.Phe83Leu
  • c.249C>G
Protein change:
F83L
Links:
UniProtKB: P29033#VAR_002142; dbSNP: rs111033218
NCBI 1000 Genomes Browser:
rs111033218
Molecular consequence:
  • NM_004004.6:c.249C>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219]

Condition(s)

Name:
Ichthyosis, hystrix-like, with hearing loss
Synonyms:
HID SYNDROME; Hystrix-like ichthyosis with deafness
Identifiers:
MONDO: MONDO:0011245; MedGen: C1865234; Orphanet: 477; OMIM: 602540

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000383022Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000383022.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024