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NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND Lewy body dementia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002247244.9

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:
Lewy body dementia (DLB)
Synonyms:
Diffuse Lewy body disease; Autosomal dominant diffuse Lewy body disease; Lewy Body Disease
Identifiers:
MONDO: MONDO:0007488; MedGen: C0752347; OMIM: 127750

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002516447Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV002516447.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024