NM_002253.4(KDR):c.2066C>T (p.Thr689Met) AND Hirschsprung disease, susceptibility to, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 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:: RCV000201301.2

Allele description [Variation Report for NM_002253.4(KDR):c.2066C>T (p.Thr689Met)]

NM_002253.4(KDR):c.2066C>T (p.Thr689Met)

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.2066C>T (p.Thr689Met)

HGVS:

NC_000004.12:g.55102430G>A
NG_012004.1:g.28166C>T
NM_002253.4:c.2066C>TMANE SELECT
NP_002244.1:p.Thr689Met
LRG_1198t1:c.2066C>T
LRG_1198:g.28166C>T
LRG_1198p1:p.Thr689Met
NC_000004.11:g.55968597G>A
NM_002253.2:c.2066C>T
P35968:p.Thr689Met

Protein change:

T689M

Links:

UniProtKB: P35968#VAR_042059; dbSNP: rs34038364

NCBI 1000 Genomes Browser:

rs34038364

Molecular consequence:

NM_002253.4:c.2066C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hirschsprung disease, susceptibility to, 1
Synonyms:: Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
Identifiers:: MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222718	Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.	no assertion criteria provided	Uncertain significance (Apr 1, 2015)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000222718

Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.

no assertion criteria provided

Uncertain significance
(Apr 1, 2015)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville., SCV000222718.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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