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NM_000071.3(CBS):c.1553-1G>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Jul 26, 2018
Accession:
VCV000554133.2
Variation ID:
554133
Description:
single nucleotide variant
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NM_000071.3(CBS):c.1553-1G>C

Allele ID
549266
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 43053984 (GRCh38) GRCh38 UCSC
21: 44474094 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.44474094C>G
NC_000021.9:g.43053984C>G
NG_008938.1:g.26947G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000021.9:43053983:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555869979
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 26, 2018 RCV000669704.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CBS - - GRCh38
GRCh37
710 791

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 27, 2017)
criteria provided, single submitter
Method: clinical testing
Classic homocystinuria
Allele origin: unknown
Counsyl
Accession: SCV000794481.1
Submitted: (Jul 10, 2018)
Evidence details
Uncertain significance
(Jul 26, 2018)
criteria provided, single submitter
Method: clinical testing
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Allele origin: germline
Invitae
Accession: SCV000828223.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change affects an acceptor splice site in the last intron (intron 16) of the CBS gene. While this is not anticipated to result … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs1555869979...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021