NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 4, 2015
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:: RCV000036340.8

Allele description [Variation Report for NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)]

NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)

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.523G>A (p.Asp175Asn)

Other names:

p.D175N:GAC>AAC

HGVS:

NC_000015.10:g.63060899G>A
NG_007557.1:g.23261G>A
NM_000366.6:c.523G>A
NM_001018004.2:c.523G>A
NM_001018005.2:c.523G>AMANE SELECT
NM_001018006.2:c.523G>A
NM_001018007.2:c.523G>A
NM_001018008.2:c.415G>A
NM_001018020.2:c.523G>A
NM_001301244.2:c.523G>A
NM_001301289.2:c.415G>A
NM_001330344.2:c.415G>A
NM_001330346.2:c.415G>A
NM_001330351.2:c.415G>A
NM_001365776.1:c.523G>A
NM_001365777.1:c.523G>A
NM_001365778.1:c.649G>A
NM_001365779.1:c.523G>A
NM_001365780.1:c.415G>A
NM_001365781.2:c.415G>A
NM_001365782.1:c.415G>A
NP_000357.3:p.Asp175Asn
NP_001018004.1:p.Asp175Asn
NP_001018005.1:p.Asp175Asn
NP_001018006.1:p.Asp175Asn
NP_001018007.1:p.Asp175Asn
NP_001018008.1:p.Asp139Asn
NP_001018020.1:p.Asp175Asn
NP_001288173.1:p.Asp175Asn
NP_001288218.1:p.Asp139Asn
NP_001317273.1:p.Asp139Asn
NP_001317275.1:p.Asp139Asn
NP_001317280.1:p.Asp139Asn
NP_001352705.1:p.Asp175Asn
NP_001352706.1:p.Asp175Asn
NP_001352707.1:p.Asp217Asn
NP_001352708.1:p.Asp175Asn
NP_001352709.1:p.Asp139Asn
NP_001352710.1:p.Asp139Asn
NP_001352711.1:p.Asp139Asn
LRG_387t1:c.523G>A
LRG_387:g.23261G>A
LRG_387p1:p.Asp175Asn
NC_000015.9:g.63353098G>A
NM_000366.5:c.523G>A
NM_001018005.1:c.523G>A
NM_001018006.1:c.523G>A
P09493:p.Asp175Asn
c.523G>A
p.(Asp175Asn)

Protein change:

D139N; ASP175ASN

Links:

Leiden Muscular Dystrophy (TPM1): TPM1_00009; UniProtKB: P09493#VAR_007601; OMIM: 191010.0002; dbSNP: rs104894503

NCBI 1000 Genomes Browser:

rs104894503

Molecular consequence:

NM_000366.6:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001018004.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001018005.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001018006.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001018007.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001018008.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001018020.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001301244.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001301289.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330344.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330346.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330351.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365776.1:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365777.1:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365778.1:c.649G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365779.1:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365780.1:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365781.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365782.1:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]

Observations:

Condition(s)

Name:: Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:: Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:: MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053302	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	no assertion criteria provided	Pathogenic (Apr 3, 2015)	germline	clinical testing
SCV000188839	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Pathogenic (Nov 4, 2015)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 7729014, 7898523, 8523464, 9822100, 11606294, 14734051 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000053302

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

no assertion criteria provided

Pathogenic
(Apr 3, 2015)

germline

clinical testing

SCV000188839

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Pathogenic
(Nov 4, 2015)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	9	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy.

Watkins H, Anan R, Coviello DA, Spirito P, Seidman JG, Seidman CE.

Circulation. 1995 May 1;91(9):2302-5.

PubMed [citation]

PMID:: 7729014

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG, et al.

N Engl J Med. 1995 Apr 20;332(16):1058-64.

PubMed [citation]

PMID:: 7898523

See all PubMed Citations (6)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053302.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Blueprint Genetics, SCV000188839.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	9	not provided	not provided	clinical testing	PubMed (6)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		9	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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