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NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 12, 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:
RCV000850515.1

Allele description [Variation Report for NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)]

NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)

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.688G>A (p.Asp230Asn)
Other names:
p.D230N:GAC>AAC
HGVS:
  • NC_000015.10:g.63062263G>A
  • NG_007557.1:g.24625G>A
  • NM_000366.6:c.688G>A
  • NM_001018004.1:c.688G>A
  • NM_001018004.2:c.688G>A
  • NM_001018005.2:c.688G>AMANE SELECT
  • NM_001018006.2:c.688G>A
  • NM_001018007.2:c.688G>A
  • NM_001018008.2:c.580G>A
  • NM_001018020.2:c.688G>A
  • NM_001301244.2:c.688G>A
  • NM_001301289.2:c.580G>A
  • NM_001330344.2:c.580G>A
  • NM_001330346.2:c.580G>A
  • NM_001330351.2:c.580G>A
  • NM_001365776.1:c.688G>A
  • NM_001365777.1:c.688G>A
  • NM_001365778.1:c.814G>A
  • NM_001365779.1:c.688G>A
  • NM_001365780.1:c.580G>A
  • NM_001365781.2:c.580G>A
  • NM_001365782.1:c.580G>A
  • NP_000357.3:p.Asp230Asn
  • NP_001018004.1:p.Asp230Asn
  • NP_001018005.1:p.Asp230Asn
  • NP_001018006.1:p.Asp230Asn
  • NP_001018007.1:p.Asp230Asn
  • NP_001018008.1:p.Asp194Asn
  • NP_001018020.1:p.Asp230Asn
  • NP_001288173.1:p.Asp230Asn
  • NP_001288218.1:p.Asp194Asn
  • NP_001317273.1:p.Asp194Asn
  • NP_001317275.1:p.Asp194Asn
  • NP_001317280.1:p.Asp194Asn
  • NP_001352705.1:p.Asp230Asn
  • NP_001352706.1:p.Asp230Asn
  • NP_001352707.1:p.Asp272Asn
  • NP_001352708.1:p.Asp230Asn
  • NP_001352709.1:p.Asp194Asn
  • NP_001352710.1:p.Asp194Asn
  • NP_001352711.1:p.Asp194Asn
  • LRG_387t1:c.688G>A
  • LRG_387:g.24625G>A
  • LRG_387p1:p.Asp230Asn
  • NC_000015.9:g.63354462G>A
  • NM_000366.5:c.688G>A
  • NM_001018005.1:c.688G>A
  • c.688G>A
  • p.(Asp230Asn)
Protein change:
D194N
Links:
Leiden Muscular Dystrophy (TPM1): TPM1_00015; dbSNP: rs199476317
NCBI 1000 Genomes Browser:
rs199476317
Molecular consequence:
  • NM_000366.6:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018004.2:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018005.2:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018006.2:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018007.2:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018008.2:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018020.2:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301244.2:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301289.2:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330344.2:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330346.2:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330351.2:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365776.1:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365777.1:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365778.1:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365779.1:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365780.1:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365781.2:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365782.1:c.580G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Name:
Hypertrophic cardiomyopathy 3
Synonyms:
Familial hypertrophic cardiomyopathy 3; TPM1-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0007267; MedGen: C1861863; OMIM: 115196
Name:
Dilated cardiomyopathy 1Y (CMD1Y)
Identifiers:
MONDO: MONDO:0012744; MedGen: C2678476; Orphanet: 154; Orphanet: 54260; OMIM: 611878

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992719Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 12, 2018) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.

Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY.

J Am Coll Cardiol. 2010 Jan 26;55(4):320-9. doi: 10.1016/j.jacc.2009.11.017.

PubMed [citation]
PMID:
20117437
PMCID:
PMC3000630

Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.

Gupte TM, Haque F, Gangadharan B, Sunitha MS, Mukherjee S, Anandhan S, Rani DS, Mukundan N, Jambekar A, Thangaraj K, Sowdhamini R, Sommese RF, Nag S, Spudich JA, Mercer JA.

J Biol Chem. 2015 Mar 13;290(11):7003-15. doi: 10.1074/jbc.M114.596676. Epub 2014 Dec 29.

PubMed [citation]
PMID:
25548289
PMCID:
PMC4358124
See all PubMed Citations (8)

Details of each submission

From Baylor Genetics, SCV000992719.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024