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NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 26, 2023
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:
RCV003343609.1

Allele description [Variation Report for NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr)]

NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr)

Gene:
TPM1:tropomyosin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr)
HGVS:
  • NC_000015.10:g.63064120G>A
  • NG_007557.1:g.26482G>A
  • NM_000366.6:c.829G>A
  • NM_001018004.2:c.772+1475G>A
  • NM_001018005.2:c.829G>AMANE SELECT
  • NM_001018006.2:c.772+1475G>A
  • NM_001018007.2:c.772+1475G>A
  • NM_001018008.2:c.664+1475G>A
  • NM_001018020.2:c.772+1475G>A
  • NM_001301244.2:c.829G>A
  • NM_001301289.2:c.664+1475G>A
  • NM_001330344.2:c.664+1475G>A
  • NM_001330346.2:c.721G>A
  • NM_001330351.2:c.664+1475G>A
  • NM_001365776.1:c.772+1475G>A
  • NM_001365777.1:c.772+1475G>A
  • NM_001365778.1:c.898+1475G>A
  • NM_001365779.1:c.829G>A
  • NM_001365780.1:c.664+1475G>A
  • NM_001365781.2:c.721G>A
  • NM_001365782.1:c.721G>A
  • NP_000357.3:p.Ala277Thr
  • NP_001018005.1:p.Ala277Thr
  • NP_001288173.1:p.Ala277Thr
  • NP_001317275.1:p.Ala241Thr
  • NP_001352708.1:p.Ala277Thr
  • NP_001352710.1:p.Ala241Thr
  • NP_001352711.1:p.Ala241Thr
  • LRG_387t1:c.829G>A
  • LRG_387:g.26482G>A
  • LRG_387p1:p.Ala277Thr
  • NC_000015.9:g.63356319G>A
  • NM_000366.5:c.829G>A
  • NM_001018005.1:c.829G>A
  • c.829G>A
Protein change:
A241T
Links:
dbSNP: rs149659674
NCBI 1000 Genomes Browser:
rs149659674
Molecular consequence:
  • NM_001018004.2:c.772+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018006.2:c.772+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018007.2:c.772+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018008.2:c.664+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018020.2:c.772+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001301289.2:c.664+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330344.2:c.664+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330351.2:c.664+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365776.1:c.772+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365777.1:c.772+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365778.1:c.898+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001365780.1:c.664+1475G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000366.6:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330346.2:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365781.2:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365782.1:c.721G>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
SCV004074915Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Aug 26, 2023) 		germlineclinical testing

PubMed (2)
[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

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL.

Genet Med. 2015 Nov;17(11):880-8. doi: 10.1038/gim.2014.205. Epub 2015 Jan 22. Erratum in: Genet Med. 2015 Apr;17(4):319. doi: 10.1038/gim.2015.16.

PubMed [citation]
PMID:
25611685

Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.

Stroeks SLVM, Hellebrekers DMEI, Claes GRF, Tayal U, Krapels IPC, Vanhoutte EK, van den Wijngaard A, Henkens MTHM, Ware JS, Heymans SRB, Brunner HG, Verdonschot JAJ.

Genet Med. 2021 Nov;23(11):2186-2193. doi: 10.1038/s41436-021-01255-1. Epub 2021 Jun 30.

PubMed [citation]
PMID:
34194005
PMCID:
PMC7614766

Details of each submission

From Ambry Genetics, SCV004074915.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.A277T variant (also known as c.829G>A), located in coding exon 9 of the TPM1 gene, results from a G to A substitution at nucleotide position 829. The alanine at codon 277 is replaced by threonine, an amino acid with similar properties. This variant has been reported in hypertrophic and dilated cardiomyopathy cohorts, but clinical details were limited (Alfares AA et al. Genet Med, 2015 Nov;17:880-8; Stroeks SLVM et al. Genet Med, 2021 Nov;23:2186-2193). This amino acid position is highly 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: Jul 23, 2024