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NM_000780.4(CYP7A1):c.*6_*7delinsAAT

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Dec 16, 2018
Most recent Submission:
Dec 16, 2018
Last evaluated:
Jul 31, 2018
Accession:
VCV000598241.3
Variation ID:
598241
Description:
3bp indel
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NM_000780.4(CYP7A1):c.*6_*7delinsAAT

Allele ID
589302
Variant type
Indel
Variant length
3 bp
Cytogenetic location
8q12.1
Genomic location
8: 58491468-58491469 (GRCh38) GRCh38 UCSC
8: 59404027-59404028 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000780.4:c.*6_*7delinsAAT MANE Select 3 prime UTR
NC_000008.11:g.58491468_58491469delinsATT
NC_000008.10:g.59404027_59404028delinsATT
NG_007969.1:g.13694_13695delinsAAT
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:58491467:CA:ATT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1563481970
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 Jul 31, 2018 RCV000734584.3
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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
(Jul 31, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Eurofins NTD LLC (GA)
Accession: SCV000862737.1
First in ClinVar: Dec 16, 2018
Last updated: Dec 16, 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: 1
Zygosity: 1 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 rs1563481970...

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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