NM_003673.4(TCAP):c.421C>G (p.Pro141Ala) AND Cardiomyopathy

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 16, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000157513.1

Allele description [Variation Report for NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)]

NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)

Gene:

TCAP:titin-cap [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)

HGVS:

NC_000017.11:g.39666026C>G
NG_008892.1:g.5681C>G
NG_042278.1:g.3046C>G
NM_003673.4:c.421C>GMANE SELECT
NP_003664.1:p.Pro141Ala
NP_003664.1:p.Pro141Ala
LRG_210t1:c.421C>G
LRG_210:g.5681C>G
LRG_210p1:p.Pro141Ala
NC_000017.10:g.37822279C>G
NM_003673.3:c.421C>G

Protein change:

P141A

Links:

dbSNP: rs45509691

NCBI 1000 Genomes Browser:

rs45509691

Molecular consequence:

NM_003673.4:c.421C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000207258	Blueprint Genetics	no assertion criteria provided	Likely benign (Jun 16, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207258

Blueprint Genetics

no assertion criteria provided

Likely benign
(Jun 16, 2014)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

Hershberger RE, Parks SB, Kushner JD, Li D, Ludwigsen S, Jakobs P, Nauman D, Burgess D, Partain J, Litt M.

Clin Transl Sci. 2008 May;1(1):21-6. doi: 10.1111/j.1752-8062.2008.00017.x.

PubMed [citation]

PMID:: 19412328
PMCID:: PMC2633921

Details of each submission

From Blueprint Genetics, SCV000207258.1

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

#	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		1	not provided	not provided	not provided

Last Updated: May 1, 2024

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