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NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 1, 2018
Accession:
VCV000550863.8
Variation ID:
550863
Description:
3bp microsatellite
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NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)

Allele ID
541917
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
2q35
Genomic location
2: 218782383-218782385 (GRCh38) GRCh38 UCSC
2: 219647106-219647108 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.219647106CTT[2]
NC_000002.12:g.218782383CTT[2]
NG_007959.1:g.5635CTT[2]
NM_000784.4:c.201CTT[2] MANE Select NP_000775.1:p.Phe70del
Protein change
F70del
Other names
-
Canonical SPDI
NC_000002.12:218782382:CTTCTTCTT:CTTCTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs774193477
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 Mar 13, 2017 RCV000665735.1
Uncertain significance 1 criteria provided, single submitter Nov 1, 2018 RCV000997668.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP27A1 - - GRCh38
GRCh37
416 439

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 13, 2017)
criteria provided, single submitter
Method: clinical testing
Cholestanol storage disease
Allele origin: unknown
Counsyl
Accession: SCV000789902.1
Submitted: (Jul 10, 2018)
Evidence details
Uncertain significance
(Nov 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001153310.7
Submitted: (Jul 04, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs774193477...

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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 Oct 07, 2021