NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) AND Desbuquois dysplasia 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 6, 2014
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:: RCV000115034.3

Allele description [Variation Report for NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys)]

NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys)

Genes:

LOC102723692:uncharacterized LOC102723692 [Gene]
XYLT1:xylosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.3

Genomic location:

Preferred name:

NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys)

HGVS:

NC_000016.10:g.17134708G>A
NG_015843.2:g.341174C>T
NM_022166.4:c.1792C>TMANE SELECT
NP_071449.1:p.Arg598Cys
NC_000016.9:g.17228565G>A
NG_015843.1:g.341174C>T
NM_022166.3:c.1792C>T
Q86Y38:p.Arg598Cys

Protein change:

R598C; ARG598CYS

Links:

UniProtKB: Q86Y38#VAR_071274; OMIM: 608124.0003; dbSNP: rs587777367

NCBI 1000 Genomes Browser:

rs587777367

Molecular consequence:

NM_022166.4:c.1792C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Desbuquois dysplasia 2 (DBQD2)
Synonyms:: Baratela-Scott syndrome
Identifiers:: MONDO: MONDO:0014343; MedGen: C4014294; Orphanet: 1425; OMIM: 615777

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148943	OMIM	no assertion criteria provided	Pathogenic (Mar 6, 2014)	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

SCV000148943

OMIM

no assertion criteria provided

Pathogenic
(Mar 6, 2014)

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

XYLT1 mutations in Desbuquois dysplasia type 2.

Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2014 Mar 6;94(3):405-14. doi: 10.1016/j.ajhg.2014.01.020. Epub 2014 Feb 27.

PubMed [citation]

PMID:: 24581741
PMCID:: PMC3951945

Details of each submission

From OMIM, SCV000148943.2

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

Description

In a 24-year-old woman and her 20-year-old brother with Desbuquois dysplasia-2 (DBQD2; 615777) from a consanguineous Tunisian family, Bui et al. (2014) identified homozygosity for a c.1792C-T transition in exon 9 of the XYLT1 gene, resulting in an arg598-to-cys (R598C) substitution in a highly conserved region. Their unaffected parents were heterozygous for the mutation, which was not found in 200 control chromosomes.

#	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: Sep 29, 2024

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