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NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 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:
RCV004019006.1

Allele description [Variation Report for NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met)]

NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met)

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.2624C>T (p.Thr875Met)
Other names:
p.T875M:ACG>ATG
HGVS:
  • NC_000007.14:g.150948512G>A
  • NG_008916.1:g.34415C>T
  • NM_000238.4:c.2624C>TMANE SELECT
  • NM_001406753.1:c.2336C>T
  • NM_172057.3:c.1604C>T
  • NP_000229.1:p.Thr875Met
  • NP_000229.1:p.Thr875Met
  • NP_001393682.1:p.Thr779Met
  • NP_742054.1:p.Thr535Met
  • NP_742054.1:p.Thr535Met
  • LRG_288t1:c.2624C>T
  • LRG_288t3:c.1604C>T
  • LRG_288:g.34415C>T
  • LRG_288p1:p.Thr875Met
  • LRG_288p3:p.Thr535Met
  • NC_000007.13:g.150645600G>A
  • NM_000238.2:c.2624C>T
  • NM_000238.3:c.2624C>T
  • NM_172056.1:c.*1387C>T
  • NM_172057.2:c.1604C>T
  • NR_176254.1:n.3032C>T
  • NR_176255.1:n.1905C>T
Protein change:
T535M
Links:
dbSNP: rs140743924
NCBI 1000 Genomes Browser:
rs140743924
Molecular consequence:
  • NM_000238.4:c.2624C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.2336C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1604C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176254.1:n.3032C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176255.1:n.1905C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004891294Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 18, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004891294.1

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

Description

The c.2624C>T (p.T875M) alteration is located in exon 11 (coding exon 11) of the KCNH2 gene. This alteration results from a C to T substitution at nucleotide position 2624, causing the threonine (T) at amino acid position 875 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024