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NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 3, 2018
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:
RCV002381261.9

Allele description [Variation Report for NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)]

NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)

Genes:
HRC:histidine rich calcium binding protein [Gene - OMIM - HGNC]
TRPM4:transient receptor potential cation channel subfamily M member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)
HGVS:
  • NC_000019.10:g.49182608G>A
  • NG_027551.2:g.29850G>A
  • NM_001195227.2:c.1294G>A
  • NM_001321281.2:c.949G>A
  • NM_001321282.2:c.-260G>A
  • NM_001321283.2:c.772G>A
  • NM_001321285.2:c.232G>A
  • NM_017636.4:c.1294G>AMANE SELECT
  • NP_001182156.1:p.Ala432Thr
  • NP_001308210.1:p.Ala317Thr
  • NP_001308212.1:p.Ala258Thr
  • NP_001308214.1:p.Ala78Thr
  • NP_060106.2:p.Ala432Thr
  • NC_000019.9:g.49685865G>A
  • NG_027551.1:g.29850G>A
  • NM_017636.3:c.1294G>A
  • Q8TD43:p.Ala432Thr
Protein change:
A258T; ALA432THR
Links:
UniProtKB: Q8TD43#VAR_066767; OMIM: 606936.0002; dbSNP: rs201907325
NCBI 1000 Genomes Browser:
rs201907325
Molecular consequence:
  • NM_001321282.2:c.-260G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001195227.2:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321281.2:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321283.2:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321285.2:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017636.4:c.1294G>A - 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
SCV002689562Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Dec 3, 2018) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease.

Liu H, El Zein L, Kruse M, Guinamard R, Beckmann A, Bozio A, Kurtbay G, Mégarbané A, Ohmert I, Blaysat G, Villain E, Pongs O, Bouvagnet P.

Circ Cardiovasc Genet. 2010 Aug;3(4):374-85. doi: 10.1161/CIRCGENETICS.109.930867. Epub 2010 Jun 19.

PubMed [citation]
PMID:
20562447

Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.

Stallmeyer B, Zumhagen S, Denjoy I, Duthoit G, Hébert JL, Ferrer X, Maugenre S, Schmitz W, Kirchhefer U, Schulze-Bahr E, Guicheney P, Schulze-Bahr E.

Hum Mutat. 2012 Jan;33(1):109-17. doi: 10.1002/humu.21599. Epub 2011 Oct 20.

PubMed [citation]
PMID:
21887725
See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV002689562.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

This alteration is classified as 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 10, 2024