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NM_001018005.2(TPM1):c.453C>A (p.Ala151=) AND not provided

Germline classification:
not provided (1 submission)
Last evaluated:
Apr 15, 2012
Review status:
no classification provided
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:
RCV000024584.3

Allele description

NM_001018005.2(TPM1):c.453C>A (p.Ala151=)

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.453C>A (p.Ala151=)
Other names:
p.A151A:GCC>GCA
HGVS:
  • NC_000015.10:g.63059641C>A
  • NG_007557.1:g.22003C>A
  • NM_000366.6:c.453C>A
  • NM_001018004.2:c.453C>A
  • NM_001018005.2:c.453C>A
  • NM_001018006.2:c.453C>A
  • NM_001018007.2:c.453C>A
  • NM_001018008.2:c.345C>A
  • NM_001018020.2:c.453C>A
  • NM_001301244.2:c.453C>A
  • NM_001301289.2:c.345C>A
  • NM_001330344.2:c.345C>A
  • NM_001330346.2:c.345C>A
  • NM_001330351.2:c.345C>A
  • NM_001365776.1:c.453C>A
  • NM_001365777.1:c.453C>A
  • NM_001365778.1:c.579C>A
  • NM_001365779.1:c.453C>A
  • NM_001365780.1:c.345C>A
  • NM_001365781.2:c.345C>A
  • NM_001365782.1:c.345C>A
  • NP_000357.3:p.Ala151=
  • NP_001018004.1:p.Ala151=
  • NP_001018005.1:p.Ala151=
  • NP_001018006.1:p.Ala151=
  • NP_001018007.1:p.Ala151=
  • NP_001018008.1:p.Ala115=
  • NP_001018020.1:p.Ala151=
  • NP_001288173.1:p.Ala151=
  • NP_001288218.1:p.Ala115=
  • NP_001317273.1:p.Ala115=
  • NP_001317275.1:p.Ala115=
  • NP_001317280.1:p.Ala115=
  • NP_001352705.1:p.Ala151=
  • NP_001352706.1:p.Ala151=
  • NP_001352707.1:p.Ala193=
  • NP_001352708.1:p.Ala151=
  • NP_001352709.1:p.Ala115=
  • NP_001352710.1:p.Ala115=
  • NP_001352711.1:p.Ala115=
  • NC_000015.9:g.63351840C>A
  • NM_000366.5:c.453C>A
  • NM_001018005.1:c.453C>A
  • NM_001018020.1:c.453C>A
  • c.453C>A
  • p.(=)
  • p.Ala151Ala
Links:
Leiden Muscular Dystrophy (TPM1): TPM1_00019; dbSNP: rs1071646
NCBI 1000 Genomes Browser:
rs1071646
Molecular consequence:
  • NM_000366.6:c.453C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018004.2:c.453C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018005.2:c.453C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018006.2:c.453C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018007.2:c.453C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018008.2:c.345C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001018020.2:c.453C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001301244.2:c.453C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001301289.2:c.345C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330344.2:c.345C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330346.2:c.345C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330351.2:c.345C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365776.1:c.453C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365777.1:c.453C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365778.1:c.579C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365779.1:c.453C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365780.1:c.345C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365781.2:c.345C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001365782.1:c.345C>A - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
probably no functional consequence

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000045893Leiden Muscular Dystrophy (TPM1)
no classification provided
not providedgermlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG.

Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Erratum in: Am J Hum Genet. 2011 Jan 7;88(1):122.

PubMed [citation]
PMID:
21109227
PMCID:
PMC2997379

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.

Fokstuen S, Munoz A, Melacini P, Iliceto S, Perrot A, Ozcelik C, Jeanrenaud X, Rieubland C, Farr M, Faber L, Sigwart U, Mach F, Lerch R, Antonarakis SE, Blouin JL.

J Med Genet. 2011 Aug;48(8):572-6. doi: 10.1136/jmg.2010.083345. Epub 2011 Jan 14.

PubMed [citation]
PMID:
21239446

Details of each submission

From Leiden Muscular Dystrophy (TPM1), SCV000045893.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 2, 2019