NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 9, 2023
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:: RCV003294436.1

Allele description [Variation Report for NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)]

NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)

Gene:

TCAP:titin-cap [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)

HGVS:

NC_000017.11:g.39665393_39665407dup
NG_008892.1:g.5048_5062dup
NG_042278.1:g.2413_2427dup
NM_003673.4:c.34_48dupMANE SELECT
NP_003664.1:p.Glu16_Arg17insGluGluAsnCysGlu
NP_003664.1:p.Glu16_Arg17insGluGluAsnCysGlu
LRG_210t1:c.34_48dup
LRG_210:g.5048_5062dup
LRG_210p1:p.Glu16_Arg17insGluGluAsnCysGlu
NC_000017.10:g.37821644_37821645insGGAGGAGAACTGTGA
NC_000017.10:g.37821646_37821660dup
NM_003673.3:c.34_48dup
NM_003673.3:c.34_48dupGAGGAGAACTGTGAG

Molecular consequence:

NM_003673.4:c.34_48dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004000863	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (May 9, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004000863

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(May 9, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004000863.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.34_48dup15 variant (also known as p.E12_E16dup), located in coding exon 1 of the TCAP gene, results from an in-frame duplication of 15 nucleotides at nucleotide positions 34 to 48. This results in the duplication of 5 extra residues (EENCE) between codons 12 and 16. These amino acid positions range from highly conserved to poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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