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NM_000238.4(KCNH2):c.985A>G (p.Thr329Ala) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 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:
RCV002386385.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.985A>G (p.Thr329Ala)]

NM_000238.4(KCNH2):c.985A>G (p.Thr329Ala)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.985A>G (p.Thr329Ala)
HGVS:
  • NC_000007.14:g.150957434T>C
  • NG_008916.1:g.25493A>G
  • NM_000238.4:c.985A>GMANE SELECT
  • NM_001406753.1:c.697A>G
  • NM_001406755.1:c.808A>G
  • NM_001406756.1:c.697A>G
  • NM_001406757.1:c.685A>G
  • NM_172056.3:c.985A>G
  • NP_000229.1:p.Thr329Ala
  • NP_000229.1:p.Thr329Ala
  • NP_001393682.1:p.Thr233Ala
  • NP_001393684.1:p.Thr270Ala
  • NP_001393685.1:p.Thr233Ala
  • NP_001393686.1:p.Thr229Ala
  • NP_742053.1:p.Thr329Ala
  • NP_742053.1:p.Thr329Ala
  • LRG_288t1:c.985A>G
  • LRG_288t2:c.985A>G
  • LRG_288:g.25493A>G
  • LRG_288p1:p.Thr329Ala
  • LRG_288p2:p.Thr329Ala
  • NC_000007.13:g.150654522T>C
  • NM_000238.3:c.985A>G
  • NM_172056.2:c.985A>G
  • NR_176254.1:n.1393A>G
Protein change:
T229A
Links:
dbSNP: rs946110595
NCBI 1000 Genomes Browser:
rs946110595
Molecular consequence:
  • NM_000238.4:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.697A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.808A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.697A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.685A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002695768Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 31, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing.

Li X, Liu N, Bai R.

Ann Hum Genet. 2020 Mar;84(2):161-168. doi: 10.1111/ahg.12359. Epub 2019 Nov 7.

PubMed [citation]
PMID:
31696929

Details of each submission

From Ambry Genetics, SCV002695768.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.T329A variant (also known as c.985A>G), located in coding exon 5 of the KCNH2 gene, results from an A to G substitution at nucleotide position 985. The threonine at codon 329 is replaced by alanine, an amino acid with similar properties. This variant has been detected in a suspected epilepsy cohort; however, details were limited (Li X et al. Ann Hum Genet, 2020 03;84:161-168). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024