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NM_000071.3(CBS):c.532G>A (p.Val178Met) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 28, 2021
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:
RCV002348095.2

Allele description [Variation Report for NM_000071.3(CBS):c.532G>A (p.Val178Met)]

NM_000071.3(CBS):c.532G>A (p.Val178Met)

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.532G>A (p.Val178Met)
HGVS:
  • NC_000021.9:g.43065521C>T
  • NG_008938.1:g.15410G>A
  • NM_000071.3:c.532G>AMANE SELECT
  • NM_001178008.3:c.532G>A
  • NM_001178009.3:c.532G>A
  • NM_001320298.2:c.532G>A
  • NM_001321072.1:c.217G>A
  • NP_000062.1:p.Val178Met
  • NP_000062.1:p.Val178Met
  • NP_001171479.1:p.Val178Met
  • NP_001171480.1:p.Val178Met
  • NP_001307227.1:p.Val178Met
  • NP_001308001.1:p.Val73Met
  • LRG_777t1:c.532G>A
  • LRG_777:g.15410G>A
  • LRG_777p1:p.Val178Met
  • NC_000021.8:g.44485631C>T
  • NM_000071.2:c.532G>A
Protein change:
V178M
Links:
dbSNP: rs370843514
NCBI 1000 Genomes Browser:
rs370843514
Molecular consequence:
  • NM_000071.3:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002643179Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 28, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002643179.2

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

Description

The p.V178M variant (also known as c.532G>A) is located in coding exon 5 of the CBS gene. The valine at codon 178 is replaced by methionine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 5. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024