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NM_000520.6(HEXA):c.496del (p.Arg166fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 10, 2020)
Last evaluated:
Oct 26, 2020
Accession:
VCV000984491.1
Variation ID:
984491
Description:
1bp deletion
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NM_000520.6(HEXA):c.496del (p.Arg166fs)

Allele ID
972599
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 72353142 (GRCh38) GRCh38 UCSC
15: 72645483 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.72645486del
NC_000015.10:g.72353145del
NM_000520.6:c.496del MANE Select NP_000511.2:p.Arg166fs frameshift
... more HGVS
Protein change
R166fs, R177fs
Other names
-
Canonical SPDI
NC_000015.10:72353141:GGGG:GGG
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 Oct 26, 2020 RCV001264519.1
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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
(Oct 26, 2020)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001442713.1
Submitted: (Nov 10, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: HEXA c.496delC (p.Arg166AlafsX33) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the 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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued? Zlotogora J Israel journal of health policy research 2019 PMID: 31839005
Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease. Drucker L Human mutation 1997 PMID: 9401008

Record last updated Jun 14, 2021