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NM_022437.3(ABCG8):c.965-1G>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Feb 1, 2019)
Last evaluated:
Dec 13, 2018
Accession:
VCV000546173.3
Variation ID:
546173
Description:
single nucleotide variant
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NM_022437.3(ABCG8):c.965-1G>C

Allele ID
536628
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 43871975 (GRCh38) GRCh38 UCSC
2: 44099114 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.43871975G>C
NC_000002.11:g.44099114G>C
NM_022437.3:c.965-1G>C splice acceptor
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs957176669
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts May 9, 2018 RCV000658014.2
Uncertain significance 1 criteria provided, single submitter Dec 13, 2018 RCV000778619.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCG8 - - GRCh38
GRCh37
196 250

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 29, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000859421.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(May 09, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000779785.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.965-1G>C variant in the ABCG8 gene has been reported previously in the homozygous state via WES, in a young adult female with elevated serum ... (more)
Uncertain significance
(Dec 13, 2018)
criteria provided, single submitter
Method: clinical testing
Sitosterolemia 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000914931.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The ABCG8 c.965-1G>C variant occurs in canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. The c.965-1G>C variant ... (more)

Citations for this variant

Title Author Journal Year Link
Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form. Bardawil T European journal of dermatology : EJD 2017 PMID: 28739549
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCG8 - - - -

Record last updated Feb 12, 2020