NM_000071.3(CBS):c.1111G>A (p.Val371Met) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000196393.2

Allele description [Variation Report for NM_000071.3(CBS):c.1111G>A (p.Val371Met)]

NM_000071.3(CBS):c.1111G>A (p.Val371Met)

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.1111G>A (p.Val371Met)
Other names:
p.V371M:GTG>ATG
HGVS:
  • NC_000021.9:g.43060475C>T
  • NG_008938.1:g.20456G>A
  • NM_000071.2:c.1111G>A
  • NM_000071.3:c.1111G>AMANE SELECT
  • NM_001178008.3:c.1111G>A
  • NM_001178009.3:c.1111G>A
  • NM_001320298.2:c.1111G>A
  • NM_001321072.1:c.796G>A
  • NP_000062.1:p.Val371Met
  • NP_000062.1:p.Val371Met
  • NP_001171479.1:p.Val371Met
  • NP_001171480.1:p.Val371Met
  • NP_001307227.1:p.Val371Met
  • NP_001308001.1:p.Val266Met
  • LRG_777t1:c.1111G>A
  • LRG_777:g.20456G>A
  • LRG_777p1:p.Val371Met
  • NC_000021.8:g.44480585C>T
  • P35520:p.Val371Met
Protein change:
V266M
Links:
UniProtKB: P35520#VAR_002190; dbSNP: rs372010465
NCBI 1000 Genomes Browser:
rs372010465
Molecular consequence:
  • NM_000071.2:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000071.3:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000249708GeneDxcriteria provided, single submitter
Pathogenic
(Jan 12, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000249708.11

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

Description

p.Val371Met (GTG>ATG): c.1111 G>A in exon 12 of the CBS gene (NM_000071.2). The Val371Met mutation in the CBS gene has been reported in association with homocystinuria (Kluijtmans L et al., 1995). Kluijtmans et al. reported Val371Met in one individual with homocystinuria, who also harbored another mutation in the CBS gene. Val371Met results in a conservative amino acid substitution of one non-polar amino acid with another at a position that is conserved across species. Mutations in nearby residues (Cys370Tyr, Asp376Asn, Arg379Trp, Arg379Gln) have been reported in association with homocystinuria, further supporting the functional importance of this region of the protein. In summary, Val371Met in the CBS gene is interpreted as a disease-causing mutation. This variant was found in TAAD

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

Last Updated: Oct 30, 2021

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