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NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer) AND Desbuquois dysplasia 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 28, 2019
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:
RCV000758147.1

Allele description [Variation Report for NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer)]

NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer)

Genes:
LOC102723692:uncharacterized LOC102723692 [Gene]
XYLT1:xylosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p12.3
Genomic location:
Preferred name:
NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer)
HGVS:
  • NC_000016.10:g.17138387_17138390dup
  • NG_015843.2:g.337493_337496dup
  • NM_022166.4:c.1730_1733dupMANE SELECT
  • NP_071449.1:p.Asp578delinsGluTer
  • NC_000016.9:g.17232244_17232247dup
  • NG_015843.1:g.337493_337496dup
  • NM_022166.3:c.1730_1733dup
  • NM_022166.3:c.1730_1733dupATGA
  • NR_135179.1:n.292_295dup
Links:
OMIM: 608124.0012; dbSNP: rs1085307563
NCBI 1000 Genomes Browser:
rs1085307563
Molecular consequence:
  • NR_135179.1:n.292_295dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_022166.4:c.1730_1733dup - nonsense - [Sequence Ontology: SO:0001587]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000886640OMIM
no assertion criteria provided
Pathogenic
(Feb 28, 2019) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics., et al.

Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13.

PubMed [citation]
PMID:
30554721
PMCID:
PMC6323552

Details of each submission

From OMIM, SCV000886640.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 4-year-old boy (patient 10-1) with Desbuquois dysplasia-2 (DBQD2; 615777), LaCroix et al. (2019) identified homozygosity for a 4-bp duplication (c.1730_1733dup, NM_022166) in the XYLT1 gene, causing a frameshift predicted to result in a premature termination codon (Asp578GlufsTer2).

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

Last Updated: Oct 8, 2024