U.S. flag

An official website of the United States government

NM_000071.3(CBS):c.1479G>A (p.Thr493=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 18, 2014
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:
RCV000196475.9

Allele description [Variation Report for NM_000071.3(CBS):c.1479G>A (p.Thr493=)]

NM_000071.3(CBS):c.1479G>A (p.Thr493=)

Gene:
CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
Other names:
p.T493T:ACG>ACA
HGVS:
  • NC_000021.9:g.43056876C>T
  • NG_008938.1:g.24055G>A
  • NM_000071.3:c.1479G>AMANE SELECT
  • NM_001178008.3:c.1479G>A
  • NM_001178009.3:c.1479G>A
  • NM_001320298.2:c.1479G>A
  • NM_001321072.1:c.1164G>A
  • NP_000062.1:p.Thr493=
  • NP_000062.1:p.Thr493=
  • NP_001171479.1:p.Thr493=
  • NP_001171480.1:p.Thr493=
  • NP_001307227.1:p.Thr493=
  • NP_001308001.1:p.Thr388=
  • LRG_777t1:c.1479G>A
  • LRG_777:g.24055G>A
  • LRG_777p1:p.Thr493=
  • NC_000021.8:g.44476986C>T
  • NM_000071.2:c.1479G>A
Links:
dbSNP: rs143225442
NCBI 1000 Genomes Browser:
rs143225442
Molecular consequence:
  • NM_000071.3:c.1479G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001178008.3:c.1479G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001178009.3:c.1479G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001320298.2:c.1479G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001321072.1:c.1164G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000249668GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Benign
(Aug 18, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000249668.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024