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NM_004982.4(KCNJ8):c.720G>A (p.Val240=) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000223792.1

Allele description [Variation Report for NM_004982.4(KCNJ8):c.720G>A (p.Val240=)]

NM_004982.4(KCNJ8):c.720G>A (p.Val240=)

Gene:
KCNJ8:potassium inwardly rectifying channel subfamily J member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_004982.4(KCNJ8):c.720G>A (p.Val240=)
HGVS:
  • NC_000012.12:g.21766278C>T
  • NG_041794.1:g.13544G>A
  • NM_004982.4:c.720G>AMANE SELECT
  • NP_004973.1:p.Val240=
  • NC_000012.11:g.21919212C>T
  • NM_004982.2:c.720G>A
  • NM_004982.3:c.720G>A
Links:
dbSNP: rs876661349
NCBI 1000 Genomes Browser:
rs876661349
Molecular consequence:
  • NM_004982.4:c.720G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000280133Stanford Center for Inherited Cardiovascular Disease, Stanford University
no assertion criteria provided
Uncertain significance
(Jul 14, 2015) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot providednot providednot providedclinical testing

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000280133.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. KCNJ8 p.Val240Val Given the lack of gene-phenotype relationship and the lack of case data, we consider this variant a variant of uncertain significance. The variant appears to be novel. There is no variation at codon 240 listed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of July 14th, 2015).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024