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NM_003673.4(TCAP):c.26_33dup (p.Glu12fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 14, 2018
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:
RCV000517582.2

Allele description [Variation Report for NM_003673.4(TCAP):c.26_33dup (p.Glu12fs)]

NM_003673.4(TCAP):c.26_33dup (p.Glu12fs)

Gene:
TCAP:titin-cap [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_003673.4(TCAP):c.26_33dup (p.Glu12fs)
HGVS:
  • NC_000017.11:g.39665385_39665392dup
  • NG_008892.1:g.5040_5047dup
  • NG_042278.1:g.2405_2412dup
  • NM_003673.4:c.26_33dupMANE SELECT
  • NP_003664.1:p.Glu12fs
  • NP_003664.1:p.Glu12fs
  • LRG_210t1:c.26_33dup
  • LRG_210:g.5040_5047dup
  • LRG_210p1:p.Glu12fs
  • NC_000017.10:g.37821635_37821636insCGAGGTGT
  • NC_000017.10:g.37821638_37821645dup
  • NM_003673.3:c.26_33dup
  • NM_003673.3:c.26_33dupAGGTGTCG
  • p.Glu12Argfs*20
Protein change:
E12fs
Links:
dbSNP: rs778568339
NCBI 1000 Genomes Browser:
rs778568339
Molecular consequence:
  • NM_003673.4:c.26_33dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000615761Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Jun 30, 2016) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV000748417GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 14, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.

Francis A, Sunitha B, Vinodh K, Polavarapu K, Katkam SK, Modi S, Bharath MM, Gayathri N, Nalini A, Thangaraj K.

PLoS One. 2014;9(7):e102763. doi: 10.1371/journal.pone.0102763.

PubMed [citation]
PMID:
25055047
PMCID:
PMC4108395

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Tian X, Liang WC, Feng Y, Wang J, Zhang VW, Chou CH, Huang HD, Lam CW, Hsu YY, Lin TS, Chen WT, Wong LJ, Jong YJ.

Neurol Genet. 2015 Aug;1(2):e14. doi: 10.1212/NXG.0000000000000015.

PubMed [citation]
PMID:
27066551
PMCID:
PMC4807910
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV000615761.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000748417.3

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

Description

The c.26_33dupAGGTGTCG variant in the TCAP gene has been reported in the homozygous state in a few unrelated individuals with LGMD2G (Waddell et a., 2012; Francis et al., 2014; Tian et al., 2015). This variant is not observed in large population cohorts (Lek et al., 2016). The c.26_33dupAGGTGTCG variant causes a shift in the reading frame starting at codon Glutamic acid 12, changing it to an Arginine, and creating a premature stop codon at position 20 of the new reading frame, denoted p.Glu12ArgfsX20. This variant is expected to result in a truncated protein product, in which the C-terminal 159 amino acids are replaced with 19 spurious amino acids. We interpret c.26_33dupAGGTGTCG as a pathogenic variant.

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

Last Updated: Oct 8, 2024