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NM_182925.5(FLT4):c.3332-356_3894-1373del AND Congenital heart defects, multiple types, 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 25, 2020
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:
RCV001003428.3

Allele description [Variation Report for NM_182925.5(FLT4):c.3332-356_3894-1373del]

NM_182925.5(FLT4):c.3332-356_3894-1373del

Gene:
FLT4:fms related receptor tyrosine kinase 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_182925.5(FLT4):c.3332-356_3894-1373del
HGVS:
  • NC_000005.10:g.180604767_180613470del
  • NG_011536.1:g.41159_49862del
  • NM_182925.5:c.3332-356_3894-1373delMANE SELECT
  • NC_000005.9:g.180031767_180040470del
Nucleotide change:
EX 25-29 DEL
Links:
OMIM: 136352.0015
Molecular consequence:
  • NM_182925.5:c.3332-356_3894-1373del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_182925.5:c.3332-356_3894-1373del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Congenital heart defects, multiple types, 7
Identifiers:
MONDO: MONDO:0032913; MedGen: C5394062; OMIM: 618780

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161723OMIM
no assertion criteria provided
Pathogenic
(Jun 25, 2020) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.

Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS.

Genet Med. 2019 Apr;21(4):1001-1007. doi: 10.1038/s41436-018-0260-9. Epub 2018 Sep 20.

PubMed [citation]
PMID:
30232381
PMCID:
PMC6752294

Details of each submission

From OMIM, SCV001161723.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 23-year-old female (TOF293) with tetralogy of Fallot, right-sided aortic arch, and absent pulmonary valve (CHTD7; 618780), Reuter et al. (2019) identified heterozygous deletion of exons 25 through 29 of the FLT4 gene (chr5:180,031,767-180,040,470del).

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

Last Updated: Jul 8, 2023