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NM_000520.6(HEXA):c.103C>T (p.Gln35Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 2, 2020)
Last evaluated:
Nov 4, 2020
Accession:
VCV000987865.1
Variation ID:
987865
Description:
single nucleotide variant
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NM_000520.6(HEXA):c.103C>T (p.Gln35Ter)

Allele ID
975828
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 72375870 (GRCh38) GRCh38 UCSC
15: 72668211 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.72375870G>A
NC_000015.9:g.72668211G>A
NM_000520.6:c.103C>T MANE Select NP_000511.2:p.Gln35Ter nonsense
... more HGVS
Protein change
Q35*
Other names
-
Canonical SPDI
NC_000015.10:72375869:G: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
Likely pathogenic 1 criteria provided, single submitter Nov 4, 2020 RCV001269254.1
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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
Likely pathogenic
(Nov 04, 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: SCV001448578.1
Submitted: (Dec 02, 2020)
Evidence details
Comment:
Variant summary: HEXA c.103C>T (p.Gln35X) 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 14, 2021