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NM_000157.4(GBA1):c.1224G>A (p.Thr408=) AND Gaucher disease type II

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV001563762.3

Allele description [Variation Report for NM_000157.4(GBA1):c.1224G>A (p.Thr408=)]

NM_000157.4(GBA1):c.1224G>A (p.Thr408=)

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.1224G>A (p.Thr408=)
HGVS:
  • NC_000001.11:g.155236245C>T
  • NG_009783.1:g.13453G>A
  • NG_042867.1:g.2707C>T
  • NM_000157.4:c.1224G>AMANE SELECT
  • NM_001005741.3:c.1224G>A
  • NM_001005742.3:c.1224G>A
  • NM_001171811.2:c.963G>A
  • NM_001171812.2:c.1077G>A
  • NP_000148.2:p.Thr408=
  • NP_001005741.1:p.Thr408=
  • NP_001005742.1:p.Thr408=
  • NP_001165282.1:p.Thr321=
  • NP_001165283.1:p.Thr359=
  • NC_000001.10:g.155206036C>T
  • NM_001005741.2:c.1224G>A
Links:
dbSNP: rs138498426
NCBI 1000 Genomes Browser:
rs138498426
Molecular consequence:
  • NM_000157.4:c.1224G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001005741.3:c.1224G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001005742.3:c.1224G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171811.2:c.963G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171812.2:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001786781Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 14, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV001786781.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024