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NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 21, 2024
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:
RCV000489929.2

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576728GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Mar 21, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000576728.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30554721)

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

Last Updated: Oct 8, 2024