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NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) AND CYP27A1-related condition

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 14, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003915020.1

Allele description [Variation Report for NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)]

NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)

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.435G>T (p.Gly145=)
HGVS:
  • NC_000002.12:g.218809756G>T
  • NG_007959.1:g.33008G>T
  • NM_000784.4:c.435G>TMANE SELECT
  • NP_000775.1:p.Gly145=
  • NC_000002.11:g.219674479G>T
  • NM_000784.3:c.435G>T
Nucleotide change:
c.435G>T
Links:
dbSNP: rs587778796
NCBI 1000 Genomes Browser:
rs587778796
Molecular consequence:
  • NM_000784.4:c.435G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
CYP27A1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004727954PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 14, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004727954.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The CYP27A1 c.435G>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to alter splicing based on available splicing prediction programs (SpliceAI, Jaganathan et al. 2019. PubMed ID: 30661751) and a RT-PCR study showed this variant impacts mRNA splicing leading to a cryptic GT Donor site (Figure 5, Chen et al. 1998. PubMed ID: 9521761). This variant has been reported in the homozygous and compound heterozygous states in multiple individuals with cerebrotendinous xanthomatosis (Figure 5, Chen et al. 1998. PubMed ID: 9521761; Figure 2, Tang et al. 2020. PubMed ID: 31914338; Figure 1, Cao et al. 2020. PubMed ID: 33269283). This variant is reported in 0.033% of alleles in individuals of East Asian descent in gnomAD. It has also been described as one of the most common variants observed in Japanese individuals with cerebrotendinous xanthomatosis (Sekijima et al. 2018. PubMed ID: 29321515). This variant is interpreted as likely pathogenic.

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

Last Updated: Mar 16, 2024