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NM_000071.3(CBS):c.467del (p.Leu156fs) AND Classic homocystinuria

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 22, 2016
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:
RCV000412346.2

Allele description [Variation Report for NM_000071.3(CBS):c.467del (p.Leu156fs)]

NM_000071.3(CBS):c.467del (p.Leu156fs)

Gene:
CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000071.3(CBS):c.467del (p.Leu156fs)
HGVS:
  • NC_000021.9:g.43065680del
  • NG_008938.1:g.15251del
  • NM_000071.3:c.467delMANE SELECT
  • NM_001178008.3:c.467del
  • NM_001178009.3:c.467del
  • NM_001320298.2:c.467del
  • NM_001321072.1:c.152del
  • NP_000062.1:p.Leu156fs
  • NP_001171479.1:p.Leu156fs
  • NP_001171480.1:p.Leu156fs
  • NP_001307227.1:p.Leu156fs
  • NP_001308001.1:p.Leu51fs
  • LRG_777:g.15251del
  • NC_000021.8:g.44485790del
  • NM_000071.2:c.467delT
Protein change:
L156fs
Links:
dbSNP: rs767036273
NCBI 1000 Genomes Browser:
rs767036273
Molecular consequence:
  • NM_000071.3:c.467del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001178008.3:c.467del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001178009.3:c.467del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320298.2:c.467del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321072.1:c.152del - 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
SCV000486710Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Jul 22, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486710.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2022