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NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 6, 2020)
Last evaluated:
Jul 23, 2019
Accession:
VCV000317044.3
Variation ID:
317044
Description:
single nucleotide variant
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NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)

Allele ID
341265
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 72348088 (GRCh38) GRCh38 UCSC
15: 72640429 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.72348088C>T
NC_000015.9:g.72640429C>T
NG_009017.2:g.33092G>A
... more HGVS
Protein change
G345S, G356S
Other names
-
Canonical SPDI
NC_000015.10:72348087:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA7644836
dbSNP: rs775322979
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Jul 23, 2019 RCV000334575.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HEXA - - GRCh38
GRCh37
484 511

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hexosaminidase A Deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000393836.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Nov 16, 2017)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: unknown
Counsyl
Accession: SCV000795436.1
Submitted: (Jul 10, 2018)
Evidence details
Uncertain significance
(Jul 23, 2019)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: germline
Invitae
Accession: SCV001416526.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with serine at codon 345 of the HEXA protein (p.Gly345Ser). The glycine residue is moderately conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. Coutelier M JAMA neurology 2018 PMID: 29482223

Text-mined citations for rs775322979...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021