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NM_000181.4(GUSB):c.1790-2dup AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 18, 2022
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:
RCV002469373.1

Allele description [Variation Report for NM_000181.4(GUSB):c.1790-2dup]

NM_000181.4(GUSB):c.1790-2dup

Gene:
GUSB:glucuronidase beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_000181.4(GUSB):c.1790-2dup
HGVS:
  • NC_000007.14:g.65961065dup
  • NG_016197.1:g.26250dup
  • NG_051954.1:g.92967dup
  • NG_051954.2:g.100295dup
  • NM_000181.4:c.1790-2dupMANE SELECT
  • NM_001284290.2:c.1352-2dup
  • NM_001293104.2:c.1220-2dup
  • NM_001293105.2:c.1133-2dup
  • NC_000007.13:g.65426051_65426052insT
  • NC_000007.13:g.65426052dup
  • NM_000181.3:c.1790-2dupA
Links:
dbSNP: rs764071830
NCBI 1000 Genomes Browser:
rs764071830
Molecular consequence:
  • NM_000181.4:c.1790-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001284290.2:c.1352-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293104.2:c.1220-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001293105.2:c.1133-2dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002765962Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Nov 18, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002765962.1

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

Description

Variant summary: GUSB c.1790-2dupA is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Computational tools predict some impact on normal splicing: Four predict the variant weakens a 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.1e-05 in 243148 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1790-2dupA in individuals affected with Mucopolysaccharidosis Type VII (Sly Syndrome) and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024