NM_000157.4(GBA):c.1060G>C (p.Asp354His) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Oct 15, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000781410.1

Allele description [Variation Report for NM_000157.4(GBA):c.1060G>C (p.Asp354His)]

NM_000157.4(GBA):c.1060G>C (p.Asp354His)

Genes:
LOC106627981:GBA recombination region [Gene]
GBA:glucosylceramidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000157.4(GBA):c.1060G>C (p.Asp354His)
HGVS:
  • NC_000001.11:g.155236409C>G
  • NG_009783.1:g.13289G>C
  • NG_042867.1:g.2871C>G
  • NM_000157.4:c.1060G>CMANE SELECT
  • NM_001005741.2(GBA):c.1060G>C
  • NM_001005741.3:c.1060G>C
  • NM_001005742.3:c.1060G>C
  • NM_001171811.2:c.799G>C
  • NM_001171812.2:c.913G>C
  • NP_000148.2:p.Asp354His
  • NP_001005741.1:p.Asp354His
  • NP_001005741.1:p.Asp354His
  • NP_001005742.1:p.Asp354His
  • NP_001165282.1:p.Asp267His
  • NP_001165283.1:p.Asp305His
  • NC_000001.10:g.155206200C>G
  • NM_001005741.2(GBA):c.1060G>C
  • NM_001005741.2:c.1060G>C
  • P04062:p.Asp354His
Protein change:
D267H
Links:
UniProtKB: P04062#VAR_003292; dbSNP: rs398123526
NCBI 1000 Genomes Browser:
rs398123526
Molecular consequence:
  • NM_000157.4:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.913G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000919417Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Oct 15, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D).

Walley AJ, Ellis I, Harris A.

Br J Haematol. 1995 Oct;91(2):330-2.

PubMed [citation]
PMID:
8547070

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919417.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: GBA c.1060G>C (p.Asp354His) results in a non-conservative amino acid change located in the Glycosyl hydrolase family 30, TIM-barrel domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 121322 control chromosomes. c.1060G>C has been reported in the literature in an individual affected with Gaucher Disease (Walley_1995). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS - possibly pathogenic.

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

Last Updated: Sep 18, 2021

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