NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro) AND Hereditary lymphedema type I

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2000
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:: RCV000017649.29

Allele description [Variation Report for NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro)]

NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro)

Gene:

FLT4:fms related receptor tyrosine kinase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro)

HGVS:

NC_000005.10:g.180616455A>G
NG_011536.1:g.38170T>C
NM_001354989.2:c.3131T>C
NM_002020.5:c.3131T>C
NM_182925.5:c.3131T>CMANE SELECT
NP_001341918.1:p.Leu1044Pro
NP_002011.2:p.Leu1044Pro
NP_891555.2:p.Leu1044Pro
NC_000005.9:g.180043455A>G
P35916:p.Leu1044Pro

Protein change:

L1044P; LEU1044PRO

Links:

UniProtKB: P35916#VAR_018414; OMIM: 136352.0004; dbSNP: rs121909651

NCBI 1000 Genomes Browser:

rs121909651

Molecular consequence:

NM_001354989.2:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002020.5:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_182925.5:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary lymphedema type I (LMPHM1)
Synonyms:: Nonne-Milroy disease; Congenital hereditary lymphedema; Early onset lymphedema; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007919; MedGen: C1704423; Orphanet: 79452; OMIM: 153100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037926	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037926

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2000)

germline

literature only

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

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.

Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, Alitalo K, Finegold DN.

Nat Genet. 2000 Jun;25(2):153-9.

PubMed [citation]

PMID:: 10835628

Details of each submission

From OMIM, SCV000037926.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a large family with autosomal dominant lymphedema (LMPHM1; 153100) in 5 generations and many different sibships, Karkkainen et al. (2000) identified heterozygosity for a transition in the FLT4 gene, resulting in a leu1044-to-pro (L1044P) substitution.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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