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NM_000157.4(GBA1):c.1495G>C (p.Val499Leu) AND Gaucher disease type I

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jul 22, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000785070.4

Allele description [Variation Report for NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)]

NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)

Genes:
LOC106627981:GBA recombination region [Gene]
GBA1:glucosylceramidase beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)
HGVS:
  • NC_000001.11:g.155235205C>G
  • NG_009783.1:g.14493G>C
  • NG_042867.1:g.1667C>G
  • NM_000157.4:c.1495G>CMANE SELECT
  • NM_001005741.3:c.1495G>C
  • NM_001005742.3:c.1495G>C
  • NM_001171811.2:c.1234G>C
  • NM_001171812.2:c.1348G>C
  • NP_000148.2:p.Val499Leu
  • NP_001005741.1:p.Val499Leu
  • NP_001005742.1:p.Val499Leu
  • NP_001165282.1:p.Val412Leu
  • NP_001165283.1:p.Val450Leu
  • NC_000001.10:g.155204996C>G
  • NM_001005741.2:c.1495G>C
Protein change:
V412L
Links:
dbSNP: rs369068553
NCBI 1000 Genomes Browser:
rs369068553
Molecular consequence:
  • NM_000157.4:c.1495G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1495G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1495G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.1234G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.1348G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Gaucher disease type I (GD1)
Synonyms:
GBA DEFICIENCY; GD I; Gaucher's disease, type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009265; MedGen: C1961835; Orphanet: 355; Orphanet: 77259; OMIM: 230800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000923625Genomic Research Center, Shahid Beheshti University of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2019) 		unknownclinical testing

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

SCV001810435Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000923625.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

From Genome-Nilou Lab, SCV001810435.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024