NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) AND Cholestanol storage disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 6, 2017
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:: RCV000669600.1

Allele description [Variation Report for NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys)]

NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys)

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.1174G>A (p.Glu392Lys)

HGVS:

NC_000002.12:g.218814177G>A
NG_007959.1:g.37429G>A
NM_000784.4:c.1174G>AMANE SELECT
NP_000775.1:p.Glu392Lys
NC_000002.11:g.219678900G>A
NM_000784.3:c.1174G>A

Protein change:

E392K

Links:

dbSNP: rs1553616443

NCBI 1000 Genomes Browser:

rs1553616443

Molecular consequence:

NM_000784.4:c.1174G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

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Mus musculus proteasome (prosome, macropain) subunit, alpha type 5 (Psma5), mRNA
Mus musculus proteasome (prosome, macropain) subunit, alpha type 5 (Psma5), mRNA
gi|110625642|ref|NM_011967.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000794370	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Oct 6, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794370

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Oct 6, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.

Chen C, Zhang Y, Wu H, Sun YM, Cai YH, Wu JJ, Wang J, Gong LY, Ding ZT.

Metab Brain Dis. 2017 Oct;32(5):1609-1618. doi: 10.1007/s11011-017-0047-8. Epub 2017 Jun 17.

PubMed [citation]

PMID:: 28623566

Details of each submission

From Counsyl, SCV000794370.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jan 15, 2023

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