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NM_000083.3(CLCN1):c.2883G>C (p.Gly961=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 29, 2016
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:
RCV000435278.1

Allele description [Variation Report for NM_000083.3(CLCN1):c.2883G>C (p.Gly961=)]

NM_000083.3(CLCN1):c.2883G>C (p.Gly961=)

Gene:
CLCN1:chloride voltage-gated channel 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_000083.3(CLCN1):c.2883G>C (p.Gly961=)
HGVS:
  • NC_000007.14:g.143351881G>C
  • NG_009815.1:g.40756G>C
  • NG_009815.2:g.40756G>C
  • NM_000083.3:c.2883G>CMANE SELECT
  • NP_000074.3:p.Gly961=
  • NC_000007.13:g.143048974G>C
  • NM_000083.2:c.2883G>C
  • NR_046453.2:n.2838G>C
Links:
dbSNP: rs1057522756
NCBI 1000 Genomes Browser:
rs1057522756
Molecular consequence:
  • NR_046453.2:n.2838G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000083.3:c.2883G>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
SCV000529237GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jul 29, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000529237.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Apr 23, 2022