NM_130837.3(OPA1):c.1377+10T>C AND not specified

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jul 16, 2020
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:: RCV000434425.3

Allele description [Variation Report for NM_130837.3(OPA1):c.1377+10T>C]

NM_130837.3(OPA1):c.1377+10T>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.1377+10T>C

HGVS:

NC_000003.12:g.193643454T>C
NG_011605.1:g.55311T>C
NM_001354663.2:c.843+10T>C
NM_001354664.2:c.840+10T>C
NM_015560.3:c.1212+10T>C
NM_130831.3:c.1104+10T>C
NM_130832.3:c.1158+10T>C
NM_130833.3:c.1215+10T>C
NM_130834.3:c.1266+10T>C
NM_130835.3:c.1269+10T>C
NM_130836.3:c.1323+10T>C
NM_130837.3:c.1377+10T>CMANE SELECT
LRG_337t1:c.1212+10T>C
LRG_337:g.55311T>C
NC_000003.11:g.193361243T>C
NM_015560.2:c.1212+10T>C

Links:

dbSNP: rs200114656

NCBI 1000 Genomes Browser:

rs200114656

Molecular consequence:

NM_001354663.2:c.843+10T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001354664.2:c.840+10T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_015560.3:c.1212+10T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_130831.3:c.1104+10T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_130832.3:c.1158+10T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_130833.3:c.1215+10T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_130834.3:c.1266+10T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_130835.3:c.1269+10T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_130836.3:c.1323+10T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_130837.3:c.1377+10T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000530671	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Aug 16, 2016)	germline	clinical testing	Citation Link,
SCV001475332	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Jul 16, 2020)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25449945, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000530671

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Aug 16, 2016)

germline

clinical testing

Citation Link,

SCV001475332

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Jul 16, 2020)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel mutation in a case of dominant optic atrophy?

Ramkumar HL, Savino PJ.

Indian J Ophthalmol. 2014 Oct;62(10):1034-6. doi: 10.4103/0301-4738.146043. No abstract available.

PubMed [citation]

PMID:: 25449945
PMCID:: PMC4278120

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000530671.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV001475332.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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