NM_000181.4(GUSB):c.1790-18dup AND not specified

Clinical significance:Benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001529104.3

Allele description [Variation Report for NM_000181.4(GUSB):c.1790-18dup]

NM_000181.4(GUSB):c.1790-18dup

Gene:
GUSB:glucuronidase beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_000181.4(GUSB):c.1790-18dup
HGVS:
  • NC_000007.14:g.65961081dup
  • NG_016197.1:g.26247dup
  • NG_051954.1:g.92983dup
  • NM_000181.4:c.1790-18dupMANE SELECT
  • NM_001284290.2:c.1352-18dup
  • NM_001293104.2:c.1220-18dup
  • NM_001293105.2:c.1133-18dup
  • NC_000007.13:g.65426068dup
  • NM_000181.3:c.1790-5dupT
Links:
dbSNP: rs750022485
NCBI 1000 Genomes Browser:
rs750022485
Molecular consequence:
  • NM_000181.4:c.1790-18dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001284290.2:c.1352-18dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293104.2:c.1220-18dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293105.2:c.1133-18dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001741989Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

SCV001971554Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001741989.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001971554.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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