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NM_000520.6(HEXA):c.254-2A>G

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 16, 2019
Accession:
VCV000943638.2
Variation ID:
943638
Description:
single nucleotide variant
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NM_000520.6(HEXA):c.254-2A>G

Allele ID
940338
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 72356619 (GRCh38) GRCh38 UCSC
15: 72648960 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.72356619T>C
NC_000015.9:g.72648960T>C
NG_009017.1:g.24561A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:72356618:T:C
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
Likely pathogenic 1 criteria provided, single submitter Oct 16, 2019 RCV001213868.2
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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
Likely pathogenic
(Oct 16, 2019)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: germline
Invitae
Accession: SCV001385520.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 1 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
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
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