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NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) AND not specified

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 13, 2016
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:
RCV004018648.1

Allele description [Variation Report for NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)]

NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)

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.703T>C (p.Ser235Pro)
HGVS:
  • NC_000001.11:g.155238192A>G
  • NG_009783.1:g.11506T>C
  • NG_042867.1:g.4654A>G
  • NM_000157.4:c.703T>CMANE SELECT
  • NM_001005741.2(GBA):c.703T>C
  • NM_001005741.3:c.703T>C
  • NM_001005742.3:c.703T>C
  • NM_001171811.2:c.442T>C
  • NM_001171812.2:c.556T>C
  • NP_000148.2:p.Ser235Pro
  • NP_001005741.1:p.Ser235Pro
  • NP_001005742.1:p.Ser235Pro
  • NP_001165282.1:p.Ser148Pro
  • NP_001165283.1:p.Ser186Pro
  • NC_000001.10:g.155207983A>G
  • NM_000157.2:c.703T>C
  • NM_000157.3:c.703T>C
  • NM_001005741.1:c.703T>C
  • NM_001005741.2(GBA):c.703T>C
  • NM_001005741.2:c.703T>C
  • NM_001005741.3:c.703T>C
  • NM_001005742.2:c.703T>C
  • NM_001171811.1:c.442T>C
  • P04062:p.Ser235Pro
Protein change:
S148P
Links:
UniProtKB: P04062#VAR_003278; dbSNP: rs1064644
NCBI 1000 Genomes Browser:
rs1064644
Molecular consequence:
  • NM_000157.4:c.703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.442T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.556T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002755537Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Dec 13, 2016) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.

Hum Mutat. 2000;15(2):181-8. Review.

PubMed [citation]
PMID:
10649495

Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.

Hodanová K, Hrebícek M, Cervenková M, Mrázová L, Vepreková L, Zemen J.

Blood Cells Mol Dis. 1999 Oct-Dec;25(5-6):287-98.

PubMed [citation]
PMID:
10744424
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002755537.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.S235P variant (also known as c.703T>C), located in coding exon 6 of the GBA gene, results from a T to C substitution at nucleotide position 703. The serine at codon 235 is replaced by proline, an amino acid with similar properties. This alteration (referred to as S196P) has been described in individuals with Gaucher disease, who were either homozygous for this alteration or had another alteration in the second allele (Stone DL et al. Hum. Mutat., 2000;15:181-8; Hodanová K et al. Blood Cells Mol. Dis. 1999;25:287-98; Filocamo M et al. Hum. Mutat., 2002 Sep;20:234-5). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Nov 10, 2024