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NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 28, 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:
RCV002273615.2

Allele description [Variation Report for NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys)]

NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys)

Gene:
GUSB:glucuronidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys)
HGVS:
  • NC_000007.14:g.65976031T>C
  • NG_016197.1:g.11284A>G
  • NM_000181.4:c.896A>GMANE SELECT
  • NM_001284290.2:c.475-960A>G
  • NM_001293104.2:c.326A>G
  • NM_001293105.2:c.239A>G
  • NP_000172.2:p.Tyr299Cys
  • NP_001280033.1:p.Tyr109Cys
  • NP_001280034.1:p.Tyr80Cys
  • NC_000007.13:g.65441018T>C
  • NM_000181.3:c.896A>G
  • NR_120531.2:n.926A>G
Protein change:
Y109C
Links:
dbSNP: rs1271320539
NCBI 1000 Genomes Browser:
rs1271320539
Molecular consequence:
  • NM_001284290.2:c.475-960A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000181.4:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293104.2:c.326A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293105.2:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120531.2:n.926A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002558485GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 28, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002558485.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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

Last Updated: Mar 16, 2024