NM_006918.5(SC5D):c.632G>A (p.Gly211Asp) AND Lathosterolosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2002
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:: RCV000007780.5

Allele description [Variation Report for NM_006918.5(SC5D):c.632G>A (p.Gly211Asp)]

NM_006918.5(SC5D):c.632G>A (p.Gly211Asp)

Gene:

SC5D:sterol-C5-desaturase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.1

Genomic location:

Preferred name:

NM_006918.5(SC5D):c.632G>A (p.Gly211Asp)

HGVS:

NC_000011.10:g.121307244G>A
NG_009446.1:g.19566G>A
NM_001024956.3:c.632G>A
NM_006918.5:c.632G>AMANE SELECT
NP_001020127.1:p.Gly211Asp
NP_008849.2:p.Gly211Asp
NC_000011.9:g.121177953G>A
O75845:p.Gly211Asp

Protein change:

G211D; GLY211ASP

Links:

UniProtKB: O75845#VAR_014424; OMIM: 602286.0002; dbSNP: rs104894296

NCBI 1000 Genomes Browser:

rs104894296

Molecular consequence:

NM_001024956.3:c.632G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006918.5:c.632G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lathosterolosis
Synonyms:: Sterol c5-desaturase deficiency; SC5D deficiency
Identifiers:: MONDO: MONDO:0011816; MedGen: C1846421; Orphanet: 46059; OMIM: 607330

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027981	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027981

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2002)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G.

Am J Hum Genet. 2002 Oct;71(4):952-8. Epub 2002 Aug 20. Erratum in: Am J Hum Genet. 2003 Aug;73(2):445.

PubMed [citation]

PMID:: 12189593
PMCID:: PMC378549

Details of each submission

From OMIM, SCV000027981.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the c.632G-A transition in the SC5D gene, resulting in a gly211-to-asp (G211D) substitution, that was found in compound heterozygous state in a patient with lathosterolosis (LATHOS; 607330) by Brunetti-Pierri et al. (2002), see 602286.0001.

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

Last Updated: Jun 9, 2024

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