Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000642.3(AGL):c.2569C>T (p.Gln857Ter)

Help
Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 30, 2020)
Last evaluated:
Nov 27, 2019
Accession:
VCV000984277.1
Variation ID:
984277
Description:
single nucleotide variant
Help

NM_000642.3(AGL):c.2569C>T (p.Gln857Ter)

Allele ID
971699
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 99884591 (GRCh38) GRCh38 UCSC
1: 100350147 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100350147C>T
NC_000001.11:g.99884591C>T
NM_000642.3:c.2569C>T MANE Select NP_000633.2:p.Gln857Ter nonsense
... more HGVS
Protein change
Q841*, Q857*
Other names
-
Canonical SPDI
NC_000001.11:99884590:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Nov 27, 2019 RCV001264287.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AGL - - GRCh38
GRCh37
1281 1296

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 27, 2019)
no assertion criteria provided
Method: clinical testing
Glycogen storage disease type III
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001442390.1
Submitted: (Oct 30, 2020)
Comment:
NM_000642.2(AGL):c.2569C>T(Q857*) is expected to be pathogenic in the context of glycogen storage disease type III. This variant is predicted to lead to an abnormal or … (more)
Evidence details

Functional evidence

Help
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

Help
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 Dec 10, 2020