NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND Optic nerve hypoplasia

Germline classification:: Uncertain significance (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000677258.11

Allele description [Variation Report for NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)]

NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)

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.1311A>G (p.Ile437Met)

Other names:

I382M

HGVS:

NC_000003.12:g.193643378A>G
NG_011605.1:g.55235A>G
NM_001354663.2:c.777A>G
NM_001354664.2:c.774A>G
NM_015560.3:c.1146A>G
NM_130831.3:c.1038A>G
NM_130832.3:c.1092A>G
NM_130833.3:c.1149A>G
NM_130834.3:c.1200A>G
NM_130835.3:c.1203A>G
NM_130836.3:c.1257A>G
NM_130837.3:c.1311A>GMANE SELECT
NP_001341592.1:p.Ile259Met
NP_001341593.1:p.Ile258Met
NP_056375.2:p.Ile382Met
NP_056375.2:p.Ile382Met
NP_570844.1:p.Ile346Met
NP_570845.1:p.Ile364Met
NP_570846.1:p.Ile383Met
NP_570847.2:p.Ile400Met
NP_570848.1:p.Ile401Met
NP_570849.2:p.Ile419Met
NP_570850.2:p.Ile437Met
NP_570850.2:p.Ile437Met
LRG_337t1:c.1146A>G
LRG_337t2:c.1311A>G
LRG_337:g.55235A>G
LRG_337p1:p.Ile382Met
LRG_337p2:p.Ile437Met
NC_000003.11:g.193361167A>G
NM_015560.2:c.1146A>G
NM_130833.1:c.1149A>G
NM_130837.2:c.1311A>G
NM_130837.3:c.1311A>G
O60313:p.Ile382Met
p.I382M

Protein change:

I258M; ILE382MET

Links:

UniProtKB: O60313#VAR_060837; OMIM: 605290.0018; dbSNP: rs143319805

NCBI 1000 Genomes Browser:

rs143319805

Molecular consequence:

NM_001354663.2:c.777A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354664.2:c.774A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015560.3:c.1146A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130831.3:c.1038A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130832.3:c.1092A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130833.3:c.1149A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130834.3:c.1200A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130835.3:c.1203A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130836.3:c.1257A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130837.3:c.1311A>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]

Condition(s)

Name:: Optic nerve hypoplasia
Identifiers:: MedGen: C0338502; Human Phenotype Ontology: HP:0000609

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000681433	Rare Disease Group, Clinical Genetics, Karolinska Institutet	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	paternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000681433

Rare Disease Group, Clinical Genetics, Karolinska Institutet

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

paternal

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	paternal	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Rare Disease Group, Clinical Genetics, Karolinska Institutet, SCV000681433.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	research	PubMed (1)

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

Last Updated: Oct 8, 2024

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