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NM_001077653.2(TBX20):c.995del (p.Pro332fs) AND Hypoplastic right heart syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2015
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:
RCV000656081.2

Allele description [Variation Report for NM_001077653.2(TBX20):c.995del (p.Pro332fs)]

NM_001077653.2(TBX20):c.995del (p.Pro332fs)

Gene:
TBX20:T-box transcription factor 20 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p14.2
Genomic location:
Preferred name:
NM_001077653.2(TBX20):c.995del (p.Pro332fs)
HGVS:
  • NC_000007.14:g.35204481del
  • NG_015805.1:g.54622del
  • NM_001077653.2:c.995delMANE SELECT
  • NP_001071121.1:p.Pro332fs
  • LRG_755t1:c.995del
  • LRG_755:g.54622del
  • LRG_755p1:p.Pro332fs
  • NC_000007.13:g.35244093del
  • NM_001077653.2:c.995delCMANE SELECT
Protein change:
P332fs
Links:
dbSNP: rs1554284604
NCBI 1000 Genomes Browser:
rs1554284604
Molecular consequence:
  • NM_001077653.2:c.995del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hypoplastic right heart syndrome
Identifiers:
MONDO: MONDO:0020291; MedGen: C0344963; Orphanet: 98723

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000598630Centre for Genomic and Experimental Medicine, University of Edinburgh
no assertion criteria provided
Pathogenic
(Dec 1, 2015) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot provided1not providedresearch

Details of each submission

From Centre for Genomic and Experimental Medicine, University of Edinburgh, SCV000598630.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1not providednot provided1not providednot providednot provided

Last Updated: May 16, 2025