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NM_001292034.3(TAB2):c.1764+1G>A AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 29, 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:
RCV002051936.2

Allele description [Variation Report for NM_001292034.3(TAB2):c.1764+1G>A]

NM_001292034.3(TAB2):c.1764+1G>A

Gene:
TAB2:TGF-beta activated kinase 1 (MAP3K7) binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.1
Genomic location:
Preferred name:
NM_001292034.3(TAB2):c.1764+1G>A
HGVS:
  • NC_000006.12:g.149397765G>A
  • NG_012301.1:g.2407G>A
  • NG_021386.2:g.184842G>A
  • NM_001292034.3:c.1764+1G>AMANE SELECT
  • NM_001292035.3:c.1668+1G>A
  • NM_001369506.1:c.1764+1G>A
  • NM_015093.6:c.1764+1G>A
  • NC_000006.11:g.149718901G>A
  • NM_015093.4:c.1764+1G>A
  • NM_015093.5:c.1764+1G>A
Links:
dbSNP: rs1782223593
NCBI 1000 Genomes Browser:
rs1782223593
Molecular consequence:
  • NM_001292034.3:c.1764+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001292035.3:c.1668+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369506.1:c.1764+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_015093.6:c.1764+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Congenital heart defects, multiple types, 2 (CHTD2)
Synonyms:
Congenital heart defects, nonsyndromic, 2
Identifiers:
MONDO: MONDO:0014000; MedGen: C3554279; OMIM: 614980
Name:
Polyvalvular heart disease syndrome
Identifiers:
MONDO: MONDO:0016460; MedGen: C4509918

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002318927Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 29, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV002318927.1

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

Description

Sequencing of RNA from peripheral blood confirmed skipping of the adjacent exon (out-of-frame), thus indicating loss-of-function as the most likely consequence of the variant.

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

Last Updated: Jun 23, 2024