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NM_000520.6(HEXA):c.289_290del (p.Val97fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 28, 2020
Accession:
VCV001075310.1
Variation ID:
1075310
Description:
2bp deletion
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NM_000520.6(HEXA):c.289_290del (p.Val97fs)

Allele ID
1063415
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
15q23
Genomic location
15: 72356581-72356582 (GRCh38) GRCh38 UCSC
15: 72648922-72648923 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.72356582_72356583del
NC_000015.9:g.72648923_72648924del
NG_009017.2:g.24598_24599del
... more HGVS
Protein change
V108fs, V97fs
Other names
-
Canonical SPDI
NC_000015.10:72356580:ACA:A
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 28, 2020 RCV001388869.1
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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 28, 2020)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: germline
Invitae
Accession: SCV001590019.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Val97Leufs*8) in the HEXA gene. It is expected to result in an absent or disrupted protein … (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
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