NM_000071.2(CBS):c.785C>T (p.Thr262Met) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 12, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000200469.2

Allele description

NM_000071.2(CBS):c.785C>T (p.Thr262Met)

Gene:

CBS:cystathionine-beta-synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_000071.2(CBS):c.785C>T (p.Thr262Met)

Other names:

p.T262M:ACG>ATG

HGVS:

NC_000021.9:g.43063943G>A
NG_008938.1:g.16988C>T
NM_000071.2:c.785C>T
NP_000062.1:p.Thr262Met
LRG_777t1:c.785C>T
LRG_777:g.16988C>T
LRG_777p1:p.Thr262Met
NC_000021.8:g.44484053G>A
P35520:p.Thr262Met

Protein change:

T262M

Links:

UniProtKB: P35520#VAR_008072; dbSNP: rs149119723

NCBI 1000 Genomes Browser:

rs149119723

Allele Frequency:

0.00001(A)

Molecular consequence:

NM_000071.2:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000249693	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 12, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000249693

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 12, 2016)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From GeneDx, SCV000249693.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The T262M missense variant has been reported in association with homocystinuria due to CBS deficiency (Kim et al., 1997). Expression studies in yeast indicate that the T262M missense change severely affects cystathionine beta-synthase enzyme activity (Kim et al., 1997). Given the available evidence, we interpret T262M as a pathogenic variant.

#	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: Dec 11, 2017

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