U.S. flag

An official website of the United States government

NM_003673.4(TCAP):c.334C>T (p.Gln112Ter) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 17, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000726238.5

Allele description [Variation Report for NM_003673.4(TCAP):c.334C>T (p.Gln112Ter)]

NM_003673.4(TCAP):c.334C>T (p.Gln112Ter)

Gene:
TCAP:titin-cap [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter)
Other names:
p.Q112*:CAG>TAG
HGVS:
  • NC_000017.11:g.39665939C>T
  • NG_008892.1:g.5594C>T
  • NG_042278.1:g.2959C>T
  • NM_003673.4:c.334C>TMANE SELECT
  • NP_003664.1:p.Gln112Ter
  • NP_003664.1:p.Gln112Ter
  • LRG_210t1:c.334C>T
  • LRG_210:g.5594C>T
  • LRG_210p1:p.Gln112Ter
  • NC_000017.10:g.37822192C>T
  • NM_003673.3:c.334C>T
Protein change:
Q112*
Links:
dbSNP: rs794729175
NCBI 1000 Genomes Browser:
rs794729175
Molecular consequence:
  • NM_003673.4:c.334C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000236409GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 17, 2016) 		germlineclinical testing

Citation Link,

SCV000343116Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Jul 5, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000236409.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q112X variant in the TCAP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Q112X is predicted to cause loss of normal protein function by protein truncation. However, the majority of cardiomyopathy-associated mutations in the TCAP gene are missense substitutions; no truncation mutations have been reported (Stenson P et al., 2014). Loss of function mutations in the TCAP gene that result in absence of protein expression from the mutant allele have only been reported in association with autosomal recessive limb-girdle muscular dystrophy type 2G (Stenson P et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

From Eurofins Ntd Llc (ga), SCV000343116.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024