NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 19, 2014
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:: RCV000414782.10

Allele description [Variation Report for NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)]

NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)

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.1226A>G (p.Asn409Ser)

Other names:

N370S

HGVS:

NC_000001.11:g.155235843T>C
NG_009783.1:g.13855A>G
NG_042867.1:g.2305T>C
NM_000157.4:c.1226A>GMANE SELECT
NM_001005741.3:c.1226A>G
NM_001005742.3:c.1226A>G
NM_001171811.2:c.965A>G
NM_001171812.2:c.1079A>G
NP_000148.2:p.Asn409Ser
NP_001005741.1:p.Asn409Ser
NP_001005741.1:p.Asn409Ser
NP_001005742.1:p.Asn409Ser
NP_001165282.1:p.Asn322Ser
NP_001165283.1:p.Asn360Ser
NC_000001.10:g.155205634T>C
NM_000157.3:c.1226A>G
NM_000157.4:c.1226A>G
NM_001005741.2(GBA):c.1226A>G
NM_001005741.2:c.1226A>G
NM_001005741.3:c.1226A>G
NM_001005742.2:c.1226A>G
NM_001171811.1:c.965A>G
P04062:p.Asn409Ser
c.1226A>G (p.Asn409Ser)

Protein change:

N322S; ASN370SER

Links:

UniProtKB: P04062#VAR_003302; OMIM: 606463.0003; dbSNP: rs76763715

NCBI 1000 Genomes Browser:

rs76763715

Molecular consequence:

NM_000157.4:c.1226A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001005741.3:c.1226A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001005742.3:c.1226A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171811.2:c.965A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171812.2:c.1079A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Rigidity
Identifiers:: MedGen: C0026837; Human Phenotype Ontology: HP:0002063

Name:: Akinesia
Identifiers:: MedGen: C0085623; Human Phenotype Ontology: HP:0002304

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000492778	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 19, 2014)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000492778

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 19, 2014)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492778.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Nov 10, 2024

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