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NM_000520.6(HEXA):c.1073+1G>C

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 14, 2020
Accession:
VCV001076289.1
Variation ID:
1076289
Description:
single nucleotide variant
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NM_000520.6(HEXA):c.1073+1G>C

Allele ID
1063413
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 72348047 (GRCh38) GRCh38 UCSC
15: 72640388 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.72348047C>G
NC_000015.9:g.72640388C>G
NG_009017.2:g.33133G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:72348046:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 14, 2020 RCV001390151.1
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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
Pathogenic
(Mar 14, 2020)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: germline
Invitae
Accession: SCV001591786.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change affects a donor splice site in intron 9 of the HEXA gene. It is expected to disrupt RNA splicing and likely results … (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
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. Park NJ Pediatric research 2010 PMID: 19858779
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. Akli S Human molecular genetics 1993 PMID: 8490625
A null allele frequent in non-Jewish Tay-Sachs patients. Akli S Human genetics 1993 PMID: 8444467
Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. Landels EC Journal of medical genetics 1992 PMID: 1387685
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. Akerman BR Human mutation 1992 PMID: 1301938
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Triggs-Raine BL American journal of human genetics 1991 PMID: 1833974

Record last updated Oct 08, 2021