NM_022166.4(XYLT1):c.1683_1712dup (p.Asp570_Trp571insCysLysCysGlnTyrLysHisIleValAsp) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 23, 2021
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:: RCV002724196.2

Allele description [Variation Report for NM_022166.4(XYLT1):c.1683_1712dup (p.Asp570_Trp571insCysLysCysGlnTyrLysHisIleValAsp)]

NM_022166.4(XYLT1):c.1683_1712dup (p.Asp570_Trp571insCysLysCysGlnTyrLysHisIleValAsp)

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.1683_1712dup (p.Asp570_Trp571insCysLysCysGlnTyrLysHisIleValAsp)

HGVS:

NC_000016.10:g.17138410_17138439dup
NG_015843.2:g.337446_337475dup
NM_022166.4:c.1683_1712dupMANE SELECT
NP_071449.1:p.Asp570_Trp571insCysLysCysGlnTyrLysHisIleValAsp
NC_000016.9:g.17232267_17232296dup
NM_022166.3:c.1683_1712dupCAAGTGCCAGTACAAGCACATCGTGGACTG
NR_135179.1:n.315_344dup

Molecular consequence:

NM_022166.4:c.1683_1712dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_135179.1:n.315_344dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003560175	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 23, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003560175

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 23, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003560175.2

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

Description

The c.1683_1712dupCAAGTGCCAGTACAAGCACATCGTGGACTG (p.C561_D570dup) alteration is located in exon 8 (coding exon 8) of the XYLT1 gene. The alteration consists of an in-frame duplication of 30 nucleotides from position 1683 to 1712, resulting in the duplication of 10 residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

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