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NM_000784.4(CYP27A1):c.1184+1G>A AND CYP27A1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 2, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004748547.1

Allele description [Variation Report for NM_000784.4(CYP27A1):c.1184+1G>A]

NM_000784.4(CYP27A1):c.1184+1G>A

Gene:
CYP27A1:cytochrome P450 family 27 subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000784.4(CYP27A1):c.1184+1G>A
HGVS:
  • NC_000002.12:g.218814188G>A
  • NG_007959.1:g.37440G>A
  • NM_000784.4:c.1184+1G>AMANE SELECT
  • NC_000002.11:g.219678911G>A
  • NM_000784.3:c.1184+1G>A
  • NM_000784.3:c.[1184+1G>A]
Nucleotide change:
c.1184+1G>A
Links:
dbSNP: rs587778777
NCBI 1000 Genomes Browser:
rs587778777
Molecular consequence:
  • NM_000784.4:c.1184+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
CYP27A1-related disorder
Synonyms:
CYP27A1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005351744PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(May 2, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005351744.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CYP27A1 c.1184+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported in the homozygous and compound heterozygous states in individuals with cerebrotendinous xanthomatosis (see for example Garuti et al. 1997. PubMed ID: 9392430; Lipiński et al. 2020. PubMed ID: 32793533). This variant is reported in 0.072% of alleles in individuals of South Asian descent in gnomAD. Variants that disrupt the consensus splice donor site in CYP27A1 are expected to be pathogenic, and this variant has been classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/65833). Given all the evidence, we interpret c.1184+1G>A as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024