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NM_001378969.1(KCND3):c.1041G>A (p.Ser347=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 11, 2020
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:
RCV002390765.9

Allele description [Variation Report for NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)]

NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)

Gene:
KCND3:potassium voltage-gated channel subfamily D member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)
HGVS:
  • NC_000001.11:g.111981686C>T
  • NG_032011.2:g.12470G>A
  • NM_001378969.1:c.1041G>AMANE SELECT
  • NM_001378970.1:c.1041G>A
  • NM_004980.5:c.1041G>A
  • NM_172198.3:c.1041G>A
  • NP_001365898.1:p.Ser347=
  • NP_001365899.1:p.Ser347=
  • NP_004971.2:p.Ser347=
  • NP_004971.2:p.Ser347=
  • NP_751948.1:p.Ser347=
  • LRG_445t1:c.1041G>A
  • LRG_445:g.12470G>A
  • LRG_445p1:p.Ser347=
  • NC_000001.10:g.112524308C>T
  • NM_004980.4:c.1041G>A
Links:
dbSNP: rs369361457
NCBI 1000 Genomes Browser:
rs369361457
Molecular consequence:
  • NM_001378969.1:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378970.1:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004980.5:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172198.3:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002704762Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 11, 2020) 		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 Ambry Genetics, SCV002704762.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024