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_000382.3(ALDH3A2):c.1108-2A>G

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Apr 8, 2016
Accession:
VCV000370751.1
Variation ID:
370751
Description:
single nucleotide variant
Help

NM_000382.3(ALDH3A2):c.1108-2A>G

Allele ID
358406
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 19664946 (GRCh38) GRCh38 UCSC
17: 19568259 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.19568259A>G
NC_000017.11:g.19664946A>G
NM_000382.3:c.1108-2A>G MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:19664945:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041816
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 8, 2016 RCV000411031.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALDH3A2 - - GRCh38
GRCh37
317 431

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 08, 2016)
criteria provided, single submitter
Method: clinical testing
Sjögren-Larsson syndrome
Allele origin: unknown
Counsyl
Accession: SCV000486145.1
Submitted: (Nov 23, 2016)
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 Aug 20, 2020