NM_182925.5(FLT4):c.3002-9A>C AND Carcinoma of colon

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 7, 2014
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:: RCV000186549.2

Allele description [Variation Report for NM_182925.5(FLT4):c.3002-9A>C]

NM_182925.5(FLT4):c.3002-9A>C

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.3002-9A>C

Other names:

KP684487

HGVS:

NC_000005.10:g.180617003T>G
NG_011536.1:g.37622A>C
NM_001354989.2:c.3002-9A>C
NM_002020.5:c.3002-9A>C
NM_182925.5:c.3002-9A>CMANE SELECT
NC_000005.9:g.180044003T>G

Links:

dbSNP: rs796052114

NCBI 1000 Genomes Browser:

rs796052114

Molecular consequence:

NM_001354989.2:c.3002-9A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_002020.5:c.3002-9A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_182925.5:c.3002-9A>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000240085	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 (May 7, 2014)	somatic	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000240085

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
(May 7, 2014)

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, SCV000240085.1

#	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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