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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002755537	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely pathogenic (Dec 13, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10649495, 10744424, 12204005 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002755537

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely pathogenic
(Dec 13, 2016)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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