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NM_001292034.3(TAB2):c.441del (p.Ala148fs) AND Congenital heart defects, multiple types, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 1, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000857317.1

Allele description [Variation Report for NM_001292034.3(TAB2):c.441del (p.Ala148fs)]

NM_001292034.3(TAB2):c.441del (p.Ala148fs)

Gene:
TAB2:TGF-beta activated kinase 1 (MAP3K7) binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q25.1
Genomic location:
Preferred name:
NM_001292034.3(TAB2):c.441del (p.Ala148fs)
HGVS:
  • NC_000006.12:g.149378356del
  • NG_021386.2:g.165433del
  • NM_001292034.3:c.441delMANE SELECT
  • NM_001292035.3:c.345del
  • NM_001369506.1:c.441del
  • NM_015093.6:c.441del
  • NP_001278963.1:p.Ala148fs
  • NP_001278964.1:p.Ala116fs
  • NP_001356435.1:p.Ala148fs
  • NP_055908.1:p.Ala148fs
  • NC_000006.11:g.149699492del
Protein change:
A116fs
Links:
dbSNP: rs1583139711
NCBI 1000 Genomes Browser:
rs1583139711
Molecular consequence:
  • NM_001292034.3:c.441del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001292035.3:c.345del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369506.1:c.441del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015093.6:c.441del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:
Congenital heart defects, multiple types, 2 (CHTD2)
Synonyms:
Congenital heart defects, nonsyndromic, 2
Identifiers:
MONDO: MONDO:0014000; MedGen: C3554279; OMIM: 614980

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000999918Quironsalud Teknon Heart Institute, Quironsalud Teknon Hospital
no assertion criteria provided
Uncertain significance
(Jul 1, 2016) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Quironsalud Teknon Heart Institute, Quironsalud Teknon Hospital, SCV000999918.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided

Description

The variant identified here is a heterozygous deletion of a single nucleotide (NC_000006.11:g.149699492delT, NM_015093.4:c.441delT) resulting in a frameshift mutation, followed by the generation of a premature amber stop codon a further 12 residues downstream (HGVS p.Gly147GlyfsTer12, CCDS5214) in TAB2. The resulting truncated protein would be only 158 residues in length, and most likely targeted for nonsense mediated decay. This suggests that it is highly likely that affected individuals will only have one functioning copy of this gene. TAB2 has been implicated in congenital heart defects previously, and here our patients have congenital myxomatous degenerative heart valve disease, in addition to mild dysmorphic fascial anomalies and short stature.

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

Last Updated: Apr 23, 2022