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NM_000071.3(CBS):c.218_230del (p.Ser73fs) AND Classic homocystinuria

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 24, 2022
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:
RCV002307179.2

Allele description [Variation Report for NM_000071.3(CBS):c.218_230del (p.Ser73fs)]

NM_000071.3(CBS):c.218_230del (p.Ser73fs)

Gene:
CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000071.3(CBS):c.218_230del (p.Ser73fs)
HGVS:
  • NC_000021.9:g.43068596_43068608del
  • NG_008938.1:g.12324_12336del
  • NM_000071.3:c.218_230delMANE SELECT
  • NM_001178008.3:c.218_230del
  • NM_001178009.3:c.218_230del
  • NM_001320298.2:c.218_230del
  • NP_000062.1:p.Ser73Cysfs
  • NP_000062.1:p.Ser73fs
  • NP_001171479.1:p.Ser73fs
  • NP_001171480.1:p.Ser73fs
  • NP_001307227.1:p.Ser73fs
  • LRG_777t1:c.217_229del
  • LRG_777:g.12324_12336del
  • LRG_777p1:p.Ser73Cysfs
  • NC_000021.8:g.44488706_44488718del
  • NM_000071.2:c.217_229delTCTCCAAAAATCT
Protein change:
S73fs
Molecular consequence:
  • NM_000071.3:c.218_230del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001178008.3:c.218_230del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001178009.3:c.218_230del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320298.2:c.218_230del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Classic homocystinuria
Synonyms:
HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE; Homocystinuria due to CBS deficiency; Homocystinuria due to cystathionine beta-synthase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009352; MedGen: C0751202; Orphanet: 394; OMIM: 236200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002604650Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(May 24, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002604650.2

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

Description

NM_000071.2(CBS):c.218_230del13(S73Cfs*5) is expected to be pathogenic in the context of homocystinuria, CBS-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CBS, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022