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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 17, 2021
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:
RCV002496273.1

Allele description [Variation Report for NM_003673.4(TCAP):c.110_110+1del]

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]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMDR7)
Synonyms:
Limb-girdle muscular dystrophy, type 2G; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; Telethoninopathy
Identifiers:
MONDO: MONDO:0011170; MedGen: C1866008; Orphanet: 34514; OMIM: 601954
Name:
Hypertrophic cardiomyopathy 25 (CMH25)
Synonyms:
Dilated cardiomyopathy 1N; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
Identifiers:
MONDO: MONDO:0011843; MedGen: C4225408; OMIM: 607487

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002806638Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 17, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002806638.1

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

Last Updated: May 1, 2024