NM_015560.2(OPA1):c.871-1G>T AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 19, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000712470.1

Allele description [Variation Report for NM_015560.2(OPA1):c.871-1G>T]

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

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_015560.2(OPA1):c.871-1G>T
HGVS:
  • NC_000003.12:g.193637951G>T
  • NG_011605.1:g.49808G>T
  • NM_001354663.2:c.502-1G>T
  • NM_001354664.2:c.499-1G>T
  • NM_015560.2:c.871-1G>T
  • NM_130831.3:c.763-1G>T
  • NM_130832.3:c.817-1G>T
  • NM_130833.2:c.874-1G>T
  • NM_130834.3:c.925-1G>T
  • NM_130835.2:c.928-1G>T
  • NM_130836.3:c.982-1G>T
  • NM_130837.2:c.1036-1G>T
  • LRG_337t1:c.871-1G>T
  • LRG_337t2:c.1036-1G>T
  • LRG_337:g.49808G>T
  • NC_000003.11:g.193355740G>T
Links:
dbSNP: rs863224130
NCBI 1000 Genomes Browser:
rs863224130
Molecular consequence:
  • NM_001354663.2:c.502-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354664.2:c.499-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_015560.2:c.871-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130831.3:c.763-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130832.3:c.817-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130833.2:c.874-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130834.3:c.925-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130835.2:c.928-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130836.3:c.982-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_130837.2:c.1036-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000842970Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Jan 19, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy.

Qin M, Kondo H, Uno H, Fujiwara E, Uchio E, Tahira T, Hayashi K.

Mol Vis. 2006 May 12;12:485-91.

PubMed [citation]
PMID:
16735988

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525159
PMCID:
PMC4362528
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000842970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 6, 2021

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