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NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr) AND Gaucher disease type I

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001200045.1

Allele description [Variation Report for NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr)]

NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr)

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.1214G>C (p.Ser405Thr)
HGVS:
  • NC_000001.11:g.155236255C>G
  • NG_009783.1:g.13443G>C
  • NG_042867.1:g.2717C>G
  • NM_000157.4:c.1214G>CMANE SELECT
  • NM_001005741.3:c.1214G>C
  • NM_001005742.3:c.1214G>C
  • NM_001171811.2:c.953G>C
  • NM_001171812.2:c.1067G>C
  • NP_000148.2:p.Ser405Thr
  • NP_001005741.1:p.Ser405Thr
  • NP_001005742.1:p.Ser405Thr
  • NP_001165282.1:p.Ser318Thr
  • NP_001165283.1:p.Ser356Thr
  • NC_000001.10:g.155206046C>G
  • NM_001005742.2:c.1214G>C
Protein change:
S318T
Links:
dbSNP: rs1392291885
NCBI 1000 Genomes Browser:
rs1392291885
Molecular consequence:
  • NM_000157.4:c.1214G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1214G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1214G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.953G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.1067G>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
probably has functional consequence

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
SCV001190532Department of Medical Biology, Faculty of Medicine, Hacettepe University
no assertion criteria provided
Likely pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Turkishinheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Department of Medical Biology, Faculty of Medicine, Hacettepe University, SCV001190532.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Turkish1not providednot providedresearchnot provided

Description

The Sanger sequencing of the exonic regions of GBA gene revealed a novel missense mutation in exon 8, c.1214G>C (p.Ser405Thr) which was identified as a compound heterozygous mutation with p.N409S allele in 1 Type I GD patient. This novel mutation was not found in 100 normal control alleles or in the 1000 Genomes database (www. 1000genomes.org) or in the Exome Aggregation Consortium (ExAc, http://exac.broadinstitute.org/). This mutation was predicted to be probably damaging by in silico mutation prediction database, PolyPhen-2 with a score of 0.968. According to protein modeling analysis, the substitution of a serine residue with a threonine residue may alter the 3D shape of the glucocerebrosidase enzyme. This missense novel GBA mutation which is located at the glucosyl hydrolase domain of the enzyme may possibly create a pathogenic effect on the activity of the enzyme. This missense novel mutation occurred at highly evolutionarily inter-species conserved sites of the glucocerebrosidase protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2023