NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=) AND Cholestanol storage disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2013
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:: RCV000056065.2

Allele description [Variation Report for NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)]

NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)

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.1017G>C (p.Thr339=)

HGVS:

NC_000002.12:g.218813096G>C
NG_007959.1:g.36348G>C
NM_000784.4:c.1017G>CMANE SELECT
NP_000775.1:p.Thr339=
NC_000002.11:g.219677819G>C
NM_000784.3:c.1017G>C

Nucleotide change:

c.1017G>C

Links:

dbSNP: rs200553205

NCBI 1000 Genomes Browser:

rs200553205

Molecular consequence:

NM_000784.4:c.1017G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Cholestanol storage disease (CTX)
Synonyms:: Cerebral cholesterinosis; CTX: Cerebrotendinous xanthomatosis; Cerebrotendinous Xanthomatosis
Identifiers:: MONDO: MONDO:0008948; MedGen: C0238052; Orphanet: 909; OMIM: 213700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000087127	GeneReviews	no assertion criteria provided	pathologic (Aug 1, 2013)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000087127

GeneReviews

no assertion criteria provided

pathologic
(Aug 1, 2013)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From GeneReviews, SCV000087127.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Jan 15, 2023

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