NM_000071.3(CBS):c.215A>T (p.Lys72Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000196407.6

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_000071.3: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
  • NM_000071.2:c.215A>T
Protein change:
K72I
Links:
dbSNP: rs192232907
NCBI 1000 Genomes Browser:
rs192232907
Molecular consequence:
  • 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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000249734GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 13, 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, SCV000249734.12

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

Description

The K72I variant of uncertain significance in the CBS gene has been reported previously in one Chinese individual with severe homocystinuria who harbored a second variant in the CBS gene (Li et al., 2018). This variant has also been identified both independently of and in conjunction with additional cardiogenetic variants in several individuals referred for TAAD / Marfan syndrome genetic testing at GeneDx. However, thus far, segregation data is limited or absent for these individuals due to the lack of clinical information provided and/or insufficient participation by informative family members. The K72I variant is observed 139/18,848 (0.74%) alleles from individuals of East Asian ancestry in large population cohorts (Lek et al., 2016). The K72I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.

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

Last Updated: Dec 4, 2021

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