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

Germline classification:: Pathogenic (1 submission)
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:: RCV001004117.9

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:: 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

Name:: Gaucher disease type II (GD2)
Synonyms:: GD II; Gaucher disease type 2; GD 2; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009266; MedGen: C0268250; OMIM: 230900

Name:: Gaucher disease type III
Synonyms:: GD III; GD 3; Gaucher disease, juvenile and adult, cerebral; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009267; MedGen: C0268251; Orphanet: 355; Orphanet: 77261; OMIM: 231000

Name:: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Synonyms:: GAUCHER DISEASE, TYPE IIIC; Gaucher disease type 3C
Identifiers:: MONDO: MONDO:0009268; MedGen: C1856476; OMIM: 231005

Recent activity

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Nucleotide
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PREDICTED: Mus musculus endosomal transmembrane epsin interactor 3 (Entrep3), transcript variant X8, mRNA
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Nucleotide
Danio rerio family with sequence similarity 114 member A1 (fam114a1), mRNA
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gi|147904484|ref|NM_001089478.1|

Nucleotide
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Mus musculus osteoclast stimulatory transmembrane protein (Ocstamp), mRNA
gi|21312817|ref|NM_029021.1|

Nucleotide
EC2CAA21CB01.b1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA ...
EC2CAA21CB01.b1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA clone xthr21D01 3', mRNA sequence
gi|45896326|gnl|dbEST|22216819|gb|C 30.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001162848	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	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

SCV001162848

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

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	germline	unknown	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 Baylor Genetics, SCV001162848.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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