NM_002253.4(KDR):c.2656C>A (p.Leu886Ile) AND Carcinoma of colon

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 24, 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:: RCV000186517.2

Allele description [Variation Report for NM_002253.4(KDR):c.2656C>A (p.Leu886Ile)]

NM_002253.4(KDR):c.2656C>A (p.Leu886Ile)

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.2656C>A (p.Leu886Ile)

Other names:

KP761781

HGVS:

NC_000004.12:g.55096301G>T
NG_012004.1:g.34295C>A
NM_002253.4:c.2656C>AMANE SELECT
NP_002244.1:p.Leu886Ile
LRG_1198t1:c.2656C>A
LRG_1198:g.34295C>A
LRG_1198p1:p.Leu886Ile
NC_000004.11:g.55962468G>T

Protein change:

L886I

Links:

dbSNP: rs794729676

NCBI 1000 Genomes Browser:

rs794729676

Molecular consequence:

NM_002253.4:c.2656C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Carcinoma of colon (CRC)
Synonyms:: Colonic carcinoma; Colon carcinoma
Identifiers:: MONDO: MONDO:0002032; MedGen: C0699790

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000240053	Immunobiology Lab; University of Kashmir - Mutational Hotspot profiling of Tyrosine Kinase domain of VEGF receptors in Human colorectal tumors	no assertion criteria provided	Uncertain significance (Jan 24, 2015)	somatic	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000240053

Immunobiology Lab; University of Kashmir - Mutational Hotspot profiling of Tyrosine Kinase domain of VEGF receptors in Human colorectal tumors

no assertion criteria provided

Uncertain significance
(Jan 24, 2015)

somatic

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Immunobiology Lab; University of Kashmir - Mutational Hotspot profiling of Tyrosine Kinase domain of VEGF receptors in Human colorectal tumors, SCV000240053.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	not provided

#	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		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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