NM_000157.4(GBA):c.896T>C (p.Ile299Thr) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Sep 23, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000180196.1

Allele description [Variation Report for NM_000157.4(GBA):c.896T>C (p.Ile299Thr)]

NM_000157.4(GBA):c.896T>C (p.Ile299Thr)

Genes:
LOC106627981:GBA recombination region [Gene]
GBA:glucosylceramidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000157.4(GBA):c.896T>C (p.Ile299Thr)
HGVS:
  • NC_000001.11:g.155237444A>G
  • NG_009783.1:g.12254T>C
  • NG_042867.1:g.3906A>G
  • NM_000157.4:c.896T>CMANE SELECT
  • NM_001005741.3:c.896T>C
  • NM_001005742.3:c.896T>C
  • NM_001171811.2:c.635T>C
  • NM_001171812.2:c.749T>C
  • NP_000148.2:p.Ile299Thr
  • NP_001005741.1:p.Ile299Thr
  • NP_001005742.1:p.Ile299Thr
  • NP_001165282.1:p.Ile212Thr
  • NP_001165283.1:p.Ile250Thr
  • NC_000001.10:g.155207235A>G
  • NM_001005741.2(GBA):c.896T>C
  • p.Ile299Thr
Protein change:
I212T
Links:
dbSNP: rs794727908
NCBI 1000 Genomes Browser:
rs794727908
Molecular consequence:
  • NM_000157.4:c.896T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.896T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.896T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.635T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232589EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Sep 23, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232589.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2021

Support Center