NM_002253.4(KDR):c.3773C>T (p.Thr1258Met) AND Teratoma

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 1, 2023
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:: RCV003221389.2

Allele description [Variation Report for NM_002253.4(KDR):c.3773C>T (p.Thr1258Met)]

NM_002253.4(KDR):c.3773C>T (p.Thr1258Met)

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.3773C>T (p.Thr1258Met)

HGVS:

NC_000004.12:g.55082031G>A
NG_012004.1:g.48565C>T
NM_002253.4:c.3773C>TMANE SELECT
NP_002244.1:p.Thr1258Met
LRG_1198t1:c.3773C>T
LRG_1198:g.48565C>T
LRG_1198p1:p.Thr1258Met
NC_000004.11:g.55948198G>A
NM_002253.3:c.3773C>T

Protein change:

T1258M

Molecular consequence:

NM_002253.4:c.3773C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Teratoma
Identifiers:: MONDO: MONDO:0002601; MedGen: C0039538; Human Phenotype Ontology: HP:0009792

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003915821	Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale	no assertion criteria provided	Uncertain significance (Jan 1, 2023)	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003915821

Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale

no assertion criteria provided

Uncertain significance
(Jan 1, 2023)

somatic

research

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	research

Details of each submission

From Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale, SCV003915821.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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: Jun 23, 2024

ClinVar

Relating variation to medicine