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NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) AND Long QT syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 8, 2024
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:
RCV003318344.9

Allele description [Variation Report for NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)]

NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)

Gene:
TCAP:titin-cap [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
HGVS:
  • NC_000017.11:g.39665393GAG[1]
  • NG_008892.1:g.5048GAG[1]
  • NG_042278.1:g.2413GAG[1]
  • NM_003673.4:c.34GAG[1]MANE SELECT
  • NP_003664.1:p.Glu13del
  • LRG_210:g.5048GAG[1]
  • NC_000017.10:g.37821645_37821647del
  • NC_000017.10:g.37821645_37821647delGGA
  • NC_000017.10:g.37821646GAG[1]
  • NM_003673.3:c.37_39delGAG
  • NM_003673.4:c.37_39delMANE SELECT
  • c.37_39delGAG
  • p.E13del
Protein change:
E13del
Links:
dbSNP: rs397516862
NCBI 1000 Genomes Browser:
rs397516862
Molecular consequence:
  • NM_003673.4:c.34GAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Long QT syndrome (LQTS)
Identifiers:
MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004022030Dept of Medical Biology, Uskudar University
criteria provided, single submitter

(Dept of Medical Biology Variant Classification)		Benign
(Jan 8, 2024) 		paternalresearch

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Turkishpaternalyes1not providednot providednot providednot providedresearch

Details of each submission

From Dept of Medical Biology, Uskudar University, SCV004022030.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Turkish1not providednot providedresearchnot provided

Description

Criteria: BS1, BS2, PM4

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

Last Updated: Nov 24, 2024