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NM_003673.4(TCAP):c.110_110+1del AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 7, 2022
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:
RCV002426492.1

Allele description

NM_003673.4(TCAP):c.110_110+1del

Gene:
TCAP:titin-cap [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_003673.4(TCAP):c.110_110+1del
HGVS:
  • NC_000017.11:g.39665469_39665470del
  • NG_008892.1:g.5124_5125del
  • NG_042278.1:g.2489_2490del
  • NM_003673.4:c.110_110+1delMANE SELECT
  • LRG_210t1:c.110_110+1del
  • LRG_210:g.5124_5125del
  • NC_000017.10:g.37821720_37821721del
  • NC_000017.10:g.37821722_37821723del
  • NM_003673.3:c.109_110del
  • NM_003673.3:c.110_110+1delGG
Note:
NCBI staff reviewed the sequence information reported in PubMed 10655062 Fig. 4 to determine the location of this allele on the current reference sequence.
Links:
OMIM: 604488.0002; dbSNP: rs786205076
NCBI 1000 Genomes Browser:
rs786205076
Molecular consequence:
  • NM_003673.4:c.110_110+1del - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002741882Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Jul 7, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.

Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE.

Nat Genet. 2000 Feb;24(2):163-6.

PubMed [citation]
PMID:
10655062

Details of each submission

From Ambry Genetics, SCV002741882.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.110_110+1delGG pathogenic mutation results from a deletion of 2 nucleotides between positions 110 and 110+1 and involves the canonical splice donor site after coding exon 1 of the TCAP gene. This alteration has been reported in a family with limb girdle muscular dystrophy and cardiac involvement, who was compound heterozygous for an additional alteration in TCAP (Moreira ES et al. Nat Genet. 2000 Feb;24(2):163-6). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024