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NM_000520.6(HEXA):c.929_930del (p.Ser310fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 17, 2021)
Last evaluated:
Feb 6, 2020
Accession:
VCV000562219.6
Variation ID:
562219
Description:
2bp microsatellite
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NM_000520.6(HEXA):c.929_930del (p.Ser310fs)

Allele ID
553391
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
15q23
Genomic location
15: 72349135-72349136 (GRCh38) GRCh38 UCSC
15: 72641476-72641477 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000520.4:c.929_930delCT
NC_000015.10:g.72349135AG[1]
NC_000015.9:g.72641476AG[1]
... more HGVS
Protein change
S310fs, S321fs
Other names
-
Canonical SPDI
NC_000015.10:72349134:AGAG:AG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs751248523
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Feb 6, 2020 RCV000681660.3
Pathogenic 1 criteria provided, single submitter Oct 28, 2019 RCV001566339.3
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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
Pathogenic
(Jun 27, 2018)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: maternal
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000809107.1
Submitted: (Jul 18, 2018)
Evidence details
Pathogenic
(Jan 22, 2019)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362844.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: HEXA c.929_930delCT (p.Ser310CysfsX13) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Feb 06, 2020)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: germline
Invitae
Accession: SCV001588140.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Ser310Cysfs*13) in the HEXA gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Oct 28, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001789841.1
Submitted: (Aug 17, 2021)
Evidence details
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (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
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. Nestrasil I Molecular genetics and metabolism 2018 PMID: 29352662
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. Akli S Human molecular genetics 1993 PMID: 8490625
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. Fernandes M Human molecular genetics 1992 PMID: 1302612
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

Text-mined citations for rs751248523...

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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 Sep 29, 2021