NM_002253.4(KDR):c.3274G>C (p.Gly1092Arg) AND KDR-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 16, 2018
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:: RCV003493380.1

Allele description [Variation Report for NM_002253.4(KDR):c.3274G>C (p.Gly1092Arg)]

NM_002253.4(KDR):c.3274G>C (p.Gly1092Arg)

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.3274G>C (p.Gly1092Arg)

Other names:

p.Gly1092Arg

HGVS:

NC_000004.12:g.55089721C>G
NG_012004.1:g.40875G>C
NM_002253.4:c.3274G>CMANE SELECT
NP_002244.1:p.Gly1092Arg
LRG_1198t1:c.3274G>C
LRG_1198:g.40875G>C
LRG_1198p1:p.Gly1092Arg
NC_000004.11:g.55955888C>G
NM_002253.2:c.3274G>C

Protein change:

G1092R

Molecular consequence:

NM_002253.4:c.3274G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: KDR-related disorder
Synonyms:: KDR-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004242187	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	no assertion criteria provided	Uncertain significance (Jan 16, 2018)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004242187

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

no assertion criteria provided

Uncertain significance
(Jan 16, 2018)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV004242187.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing (GTR000570492.1)	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	Blood	not provided	(GTR000570492.1)	1	not provided	not provided	not provided

Last Updated: May 26, 2024

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