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NM_000083.3(CLCN1):c.2864A>G (p.Glu955Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 17, 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:
RCV002284761.2

Allele description [Variation Report for NM_000083.3(CLCN1):c.2864A>G (p.Glu955Gly)]

NM_000083.3(CLCN1):c.2864A>G (p.Glu955Gly)

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.2864A>G (p.Glu955Gly)
HGVS:
  • NC_000007.14:g.143351862A>G
  • NG_009815.2:g.40737A>G
  • NM_000083.3:c.2864A>GMANE SELECT
  • NP_000074.3:p.Glu955Gly
  • NC_000007.13:g.143048955A>G
  • NM_000083.2:c.2864A>G
  • NR_046453.2:n.2819A>G
Protein change:
E955G
Molecular consequence:
  • NM_000083.3:c.2864A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046453.2:n.2819A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002574352GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 17, 2022) 		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, SCV002574352.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Mar 4, 2023