NM_000071.3(CBS):c.215A>T (p.Lys72Ile) AND none provided

Clinical significance:Uncertain significance (Last evaluated: Feb 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001285369.2

Allele description [Variation Report for NM_000071.3(CBS):c.215A>T (p.Lys72Ile)]

NM_000071.3(CBS):c.215A>T (p.Lys72Ile)

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.215A>T (p.Lys72Ile)
Other names:
p.K72I:AAA>ATA
HGVS:
  • NC_000021.9:g.43068610T>A
  • NG_008938.1:g.12321A>T
  • NM_000071.2:c.215A>T
  • NM_000071.3:c.215A>TMANE SELECT
  • NM_001178008.3:c.215A>T
  • NM_001178009.3:c.215A>T
  • NM_001320298.2:c.215A>T
  • NP_000062.1:p.Lys72Ile
  • NP_000062.1:p.Lys72Ile
  • NP_001171479.1:p.Lys72Ile
  • NP_001171480.1:p.Lys72Ile
  • NP_001307227.1:p.Lys72Ile
  • LRG_777t1:c.215A>T
  • LRG_777:g.12321A>T
  • LRG_777p1:p.Lys72Ile
  • NC_000021.8:g.44488720T>A
Protein change:
K72I
Links:
dbSNP: rs192232907
NCBI 1000 Genomes Browser:
rs192232907
Molecular consequence:
  • NM_000071.2:c.215A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000071.3:c.215A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.215A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.215A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.215A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001471787ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Feb 23, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471787.1

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

Description

The CBS c.215A>T; p.Lys72Ile variant (rs192232907) is reported in the literature in an individual affected with coronary artery dissection and another individual affected with homocystinuria (Kaadan 2018, Li 2018). The individual affected with homocystinuria also carried a second missense variant, although the clinical significance of the second variant was not demonstrated (Li 2018). The p.Lys72Ile variant is found in the East Asian population with an overall allele frequency of 0.76% (151/19924 alleles) in the Genome Aggregation Database. The lysine at codon 72 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Lys72Ile variant is uncertain at this time. References: Kaadan et al. Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection. Circ Genom Precis Med. 2018 Apr;11(4):e001933. Li et al. Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria. World J Pediatr. 2018 Apr;14(2):197-203.

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

Last Updated: Nov 11, 2021

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