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NM_005429.4(VEGFC):c.571_572insTT (p.Pro191Leufs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 29, 2014)
Last evaluated:
Mar 15, 2013
Accession:
VCV000140736.1
Variation ID:
140736
Description:
2bp insertion
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NM_005429.4(VEGFC):c.571_572insTT (p.Pro191Leufs)

Allele ID
150449
Variant type
Insertion
Variant length
2 bp
Cytogenetic location
4q34.3
Genomic location
4: 176711631-176711632 (GRCh38) GRCh38 UCSC
4: 177632785-177632786 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.177632785_177632786insAA
NM_005429.4:c.571_572insTT NP_005420.1:p.Pro191Leufs frameshift
NG_034216.1:g.86114_86115insTT
NC_000004.12:g.176711631_176711632insAA
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs587777566
OMIM: 601528.0001
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Mar 15, 2013 RCV000128848.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VEGFC - - GRCh38
GRCh37
6 70

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 15, 2013)
no assertion criteria provided
Method: literature only
LYMPHATIC MALFORMATION 4
Allele origin: germline
OMIM
Accession: SCV000172680.3
Submitted: (Jul 29, 2014)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. Gordon K Circulation research 2013 PMID: 23410910

Record last updated Jun 17, 2019