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NM_004004.6(GJB2):c.645T>C (p.Ile215=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 10, 2022
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:
RCV002282540.1

Allele description [Variation Report for NM_004004.6(GJB2):c.645T>C (p.Ile215=)]

NM_004004.6(GJB2):c.645T>C (p.Ile215=)

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.645T>C (p.Ile215=)
HGVS:
  • NC_000013.11:g.20188937A>G
  • NG_008358.1:g.9039T>C
  • NM_004004.6:c.645T>CMANE SELECT
  • NP_003995.2:p.Ile215=
  • LRG_1350t1:c.645T>C
  • LRG_1350:g.9039T>C
  • LRG_1350p1:p.Ile215=
  • NC_000013.10:g.20763076A>G
  • NM_004004.5:c.645T>C
Links:
dbSNP: rs750216973
NCBI 1000 Genomes Browser:
rs750216973
Molecular consequence:
  • NM_004004.6:c.645T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002571929Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Aug 10, 2022) 		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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002571929.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024