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NM_000382.3(ALDH3A2):c.471+2T>G

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Nov 8, 2017
Accession:
VCV000554843.1
Variation ID:
554843
Description:
single nucleotide variant
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NM_000382.3(ALDH3A2):c.471+2T>G

Allele ID
547995
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 19652634 (GRCh38) GRCh38 UCSC
17: 19555947 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.19555947T>G
NC_000017.11:g.19652634T>G
NM_000382.3:c.471+2T>G MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:19652633:T:G
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 8, 2017 RCV000670542.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALDH3A2 - - GRCh38
GRCh37
317 431

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 08, 2017)
criteria provided, single submitter
Method: clinical testing
Sjögren-Larsson syndrome
Allele origin: unknown
Counsyl
Accession: SCV000795405.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

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
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. Didona B Journal of human genetics 2007 PMID: 17902024

Record last updated Aug 20, 2020