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NM_130837.3(OPA1):c.1035+4T>C AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Feb 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000676694.23

Allele description [Variation Report for NM_130837.3(OPA1):c.1035+4T>C]

NM_130837.3(OPA1):c.1035+4T>C

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_130837.3(OPA1):c.1035+4T>C
HGVS:
  • NC_000003.12:g.193637285T>C
  • NG_011605.1:g.49142T>C
  • NM_001354663.2:c.501+4T>C
  • NM_001354664.2:c.498+4T>C
  • NM_015560.3:c.870+4T>C
  • NM_130831.3:c.762+4T>C
  • NM_130832.3:c.816+4T>C
  • NM_130833.3:c.873+4T>C
  • NM_130834.3:c.924+4T>C
  • NM_130835.3:c.927+4T>C
  • NM_130836.3:c.981+4T>C
  • NM_130837.3:c.1035+4T>CMANE SELECT
  • LRG_337t1:c.870+4T>C
  • LRG_337t2:c.1035+4T>C
  • LRG_337:g.49142T>C
  • NC_000003.11:g.193355074T>C
  • NM_015560.2:c.870+4T>C
  • NM_130837.2:c.1035+4T>C
Links:
dbSNP: rs166850
NCBI 1000 Genomes Browser:
rs166850
Molecular consequence:
  • NM_001354663.2:c.501+4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354664.2:c.498+4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015560.3:c.870+4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130831.3:c.762+4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130832.3:c.816+4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130833.3:c.873+4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130834.3:c.924+4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130835.3:c.927+4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130836.3:c.981+4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130837.3:c.1035+4T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000802491Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Benign
(Feb 19, 2016) 		unknownclinical testing

SCV001156722ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Nov 29, 2023) 		germlineclinical testing

Citation Link,

SCV001718736Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Feb 1, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000802491.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001156722.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001718736.3

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

Last Updated: Sep 16, 2024