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NM_000071.3(CBS):c.5C>T (p.Pro2Leu) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 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:
RCV002354543.9

Allele description [Variation Report for NM_000071.3(CBS):c.5C>T (p.Pro2Leu)]

NM_000071.3(CBS):c.5C>T (p.Pro2Leu)

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.5C>T (p.Pro2Leu)
Other names:
p.P2L:CCT>CTT
HGVS:
  • NC_000021.9:g.43072189G>A
  • NG_008938.1:g.8742C>T
  • NM_000071.3:c.5C>TMANE SELECT
  • NM_001178008.3:c.5C>T
  • NM_001178009.3:c.5C>T
  • NM_001320298.2:c.5C>T
  • NP_000062.1:p.Pro2Leu
  • NP_000062.1:p.Pro2Leu
  • NP_001171479.1:p.Pro2Leu
  • NP_001171480.1:p.Pro2Leu
  • NP_001307227.1:p.Pro2Leu
  • LRG_777t1:c.5C>T
  • LRG_777:g.8742C>T
  • LRG_777p1:p.Pro2Leu
  • NC_000021.8:g.44492299G>A
  • NM_000071.2:c.5C>T
Protein change:
P2L
Links:
dbSNP: rs546530618
NCBI 1000 Genomes Browser:
rs546530618
Molecular consequence:
  • NM_000071.3:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.5C>T - 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
SCV002657169Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 16, 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, SCV002657169.2

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

Description

The p.P2L variant (also known as c.5C>T), located in coding exon 1 of the CBS gene, results from a C to T substitution at nucleotide position 5. The proline at codon 2 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Nov 3, 2024