NM_130837.3(OPA1):c.1834_1836del (p.Arg612del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 25, 2018
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:: RCV000712462.2

Allele description [Variation Report for NM_130837.3(OPA1):c.1834_1836del (p.Arg612del)]

NM_130837.3(OPA1):c.1834_1836del (p.Arg612del)

Genes:

LOC126806913:BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576 [Gene]
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q29

Genomic location:

Preferred name:

NM_130837.3(OPA1):c.1834_1836del (p.Arg612del)

HGVS:

NC_000003.12:g.193647144_193647146del
NG_011605.1:g.59001_59003del
NM_001354663.2:c.1300_1302del
NM_001354664.2:c.1297_1299del
NM_015560.3:c.1669_1671del
NM_130831.3:c.1561_1563del
NM_130832.3:c.1615_1617del
NM_130833.3:c.1672_1674del
NM_130834.3:c.1723_1725del
NM_130835.3:c.1726_1728del
NM_130836.3:c.1780_1782del
NM_130837.3:c.1834_1836delMANE SELECT
NP_001341592.1:p.Arg434del
NP_001341593.1:p.Arg433del
NP_056375.2:p.Arg557del
NP_056375.2:p.Arg557del
NP_570844.1:p.Arg521del
NP_570845.1:p.Arg539del
NP_570846.1:p.Arg558del
NP_570847.2:p.Arg575del
NP_570848.1:p.Arg576del
NP_570849.2:p.Arg594del
NP_570850.2:p.Arg612del
LRG_337t1:c.1669_1671del
LRG_337:g.59001_59003del
LRG_337p1:p.Arg557del
NC_000003.11:g.193364933_193364935del
NM_015560.2:c.1669_1671del

Protein change:

R433del

Links:

dbSNP: rs1560380246

NCBI 1000 Genomes Browser:

rs1560380246

Molecular consequence:

NM_001354663.2:c.1300_1302del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354664.2:c.1297_1299del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_015560.3:c.1669_1671del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130831.3:c.1561_1563del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130832.3:c.1615_1617del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130833.3:c.1672_1674del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130834.3:c.1723_1725del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130835.3:c.1726_1728del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130836.3:c.1780_1782del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130837.3:c.1834_1836del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000842960	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Apr 25, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000842960

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Apr 25, 2018)

germline

clinical testing

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Athena Diagnostics, SCV000842960.1

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

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

Last Updated: May 7, 2024

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