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NM_000780.4(CYP7A1):c.*5A>G

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Apr 2, 2018
Most recent Submission:
Apr 2, 2018
Last evaluated:
Jan 27, 2017
Accession:
VCV000500154.3
Variation ID:
500154
Description:
single nucleotide variant
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NM_000780.4(CYP7A1):c.*5A>G

Allele ID
491578
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q12.1
Genomic location
8: 58491470 (GRCh38) GRCh38 UCSC
8: 59404029 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000780.4:c.*5A>G MANE Select 3 prime UTR
NC_000008.11:g.58491470T>C
NC_000008.10:g.59404029T>C
NG_007969.1:g.13693A>G
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:58491469:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA658797102
dbSNP: rs1554557963
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 27, 2017 RCV000591224.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP7A1 - - GRCh38
GRCh37
74 108

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jan 27, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Eurofins NTD LLC (GA)
Accession: SCV000705973.2
First in ClinVar: Apr 02, 2018
Last updated: Apr 02, 2018
Other databases
http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP7A1
Number of individuals with the variant: 2
Zygosity: 2 Single Heterozygote
Sex: mixed

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP7A1 - - - -

Text-mined citations for rs1554557963...

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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 Apr 25, 2022