NM_002253.4(KDR):c.2312C>T (p.Thr771Met) AND Tufted angioma of skin

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 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:: RCV001849436.1

Allele description [Variation Report for NM_002253.4(KDR):c.2312C>T (p.Thr771Met)]

NM_002253.4(KDR):c.2312C>T (p.Thr771Met)

Gene:

KDR:kinase insert domain receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

Preferred name:

NM_002253.4(KDR):c.2312C>T (p.Thr771Met)

HGVS:

NC_000004.12:g.55098758G>A
NG_012004.1:g.31838C>T
NM_002253.4:c.2312C>TMANE SELECT
NP_002244.1:p.Thr771Met
LRG_1198t1:c.2312C>T
LRG_1198:g.31838C>T
LRG_1198p1:p.Thr771Met
NC_000004.11:g.55964925G>A
NM_002253.2:c.2312C>T
NM_002253.3:c.2312C>T

Protein change:

T771M

Links:

dbSNP: rs149745504

NCBI 1000 Genomes Browser:

rs149745504

Molecular consequence:

NM_002253.4:c.2312C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Tufted angioma of skin
Synonyms:: Tufted angioma
Identifiers:: MONDO: MONDO:0011927; MedGen: C0346073; Orphanet: 1063; OMIM: 607859; Human Phenotype Ontology: HP:0012329

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002106524	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Likely pathogenic (Nov 1, 2015)	somatic	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

SCV002106524

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Likely pathogenic
(Nov 1, 2015)

somatic

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Somatic p.T771R KDR (VEGFR2) Mutation Arising in a Sporadic Angioma During Ramucirumab Therapy.

Lim YH, Odell ID, Ko CJ, Choate KA.

JAMA Dermatol. 2015 Nov;151(11):1240-3. doi: 10.1001/jamadermatol.2015.1925.

PubMed [citation]

PMID:: 26422291

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106524.1

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

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

Last Updated: Oct 20, 2024

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