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NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2012
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:
RCV000036362.5

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]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000060014Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Oct 31, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060014.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The Ala277Thr varia nt in TPM1 has not been reported in the literature. This variant has been identi fied in 2 Black individuals with HCM tested by our laboratory (including this in dividual) and has been identified in 1/4406 African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington .edu/EVS; dbSNP rs149659674). Alanine (Ala) at position 277 is not well conserve d in evolution with several species carrying the mutant amino acid (threonine). This suggests that this variant is tolerated but is insufficient to rule out a role in disease. Additional information is needed to fully assess the clinical s ignificance of the Ala277Thr variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Sep 29, 2024