NM_130837.3(OPA1):c.1857del (p.Asp620fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 25, 2020
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:: RCV001996924.4

Allele description [Variation Report for NM_130837.3(OPA1):c.1857del (p.Asp620fs)]

NM_130837.3(OPA1):c.1857del (p.Asp620fs)

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.1857del (p.Asp620fs)

HGVS:

NC_000003.12:g.193647167del
NG_011605.1:g.59024del
NM_001354663.2:c.1323del
NM_001354664.2:c.1320del
NM_015560.3:c.1692del
NM_130831.3:c.1584del
NM_130832.3:c.1638del
NM_130833.3:c.1695del
NM_130834.3:c.1746del
NM_130835.3:c.1749del
NM_130836.3:c.1803del
NM_130837.3:c.1857delMANE SELECT
NP_001341592.1:p.Asp442fs
NP_001341593.1:p.Asp441fs
NP_056375.2:p.Asp565fs
NP_570844.1:p.Asp529fs
NP_570845.1:p.Asp547fs
NP_570846.1:p.Asp566fs
NP_570847.2:p.Asp583fs
NP_570848.1:p.Asp584fs
NP_570849.2:p.Asp602fs
NP_570850.2:p.Asp620fs
LRG_337:g.59024del
NC_000003.11:g.193364956del

Protein change:

D441fs

Links:

dbSNP: rs2109070551

NCBI 1000 Genomes Browser:

rs2109070551

Molecular consequence:

NM_001354663.2:c.1323del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354664.2:c.1320del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015560.3:c.1692del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130831.3:c.1584del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130832.3:c.1638del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130833.3:c.1695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130834.3:c.1746del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130835.3:c.1749del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130836.3:c.1803del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130837.3:c.1857del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002219119	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 25, 2020)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 11440988, 20157015, 20952381, 25012220, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002219119

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 25, 2020)

germline

clinical testing

PubMed (5)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B.

Hum Mol Genet. 2001 Jun 15;10(13):1359-68.

PubMed [citation]

PMID:: 11440988

Multi-system neurological disease is common in patients with OPA1 mutations.

Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, et al.

Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15.

PubMed [citation]

PMID:: 20157015
PMCID:: PMC2842512

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002219119.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with OPA1-related conditions. This sequence change creates a premature translational stop signal (p.Asp565Ilefs*44) in the OPA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPA1 are known to be pathogenic (PMID: 11440988, 20157015, 20952381, 25012220).

#	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: Sep 29, 2024

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