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NM_015560.2(OPA1):c.871-1G>T

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 31, 2018)
Last evaluated:
Jan 19, 2018
Accession:
VCV000586201.1
Variation ID:
586201
Description:
single nucleotide variant
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NM_015560.2(OPA1):c.871-1G>T

Allele ID
576728
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193637951 (GRCh38) GRCh38 UCSC
3: 193355740 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.193355740G>T
NC_000003.12:g.193637951G>T
NM_130837.2:c.1036-1G>T splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:193637950:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs863224130
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 Jan 19, 2018 RCV000712470.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OPA1 - - GRCh38
GRCh37
498 564

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842970.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (2)

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
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Xiong HY Science (New York, N.Y.) 2015 PMID: 25525159
Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy. Qin M Molecular vision 2006 PMID: 16735988

Text-mined citations for rs863224130...

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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 Feb 05, 2021