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NM_003673.4(TCAP):c.22T>A (p.Cys8Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 2019
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:
RCV000806192.8

Allele description [Variation Report for NM_003673.4(TCAP):c.22T>A (p.Cys8Ser)]

NM_003673.4(TCAP):c.22T>A (p.Cys8Ser)

Gene:
TCAP:titin-cap [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_003673.4(TCAP):c.22T>A (p.Cys8Ser)
HGVS:
  • NC_000017.11:g.39665381T>A
  • NG_008892.1:g.5036T>A
  • NG_042278.1:g.2401T>A
  • NM_003673.4:c.22T>AMANE SELECT
  • NP_003664.1:p.Cys8Ser
  • NP_003664.1:p.Cys8Ser
  • LRG_210t1:c.22T>A
  • LRG_210:g.5036T>A
  • LRG_210p1:p.Cys8Ser
  • NC_000017.10:g.37821634T>A
  • NM_003673.3:c.22T>A
Protein change:
C8S
Links:
dbSNP: rs1597805144
NCBI 1000 Genomes Browser:
rs1597805144
Molecular consequence:
  • NM_003673.4:c.22T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 25 (CMH25)
Synonyms:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
Identifiers:
MONDO: MONDO:0011843; MedGen: C4225408; OMIM: 607487
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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000946178Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Feb 5, 2019) 		germlineclinical testing

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

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Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000946178.6

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

Description

This sequence change replaces cysteine with serine at codon 8 of the TCAP protein (p.Cys8Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TCAP-related conditions. This variant is not present in population databases (ExAC no frequency).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024