NM_130837.3(OPA1):c.3010del (p.Asp1005fs) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Sep 11, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001288318.2

Allele description [Variation Report for NM_130837.3(OPA1):c.3010del (p.Asp1005fs)]

NM_130837.3(OPA1):c.3010del (p.Asp1005fs)

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.3010del (p.Asp1005fs)
HGVS:
  • NC_000003.12:g.193692089del
  • NG_011605.1:g.103946del
  • NM_001354663.2:c.2476del
  • NM_001354664.2:c.2473del
  • NM_015560.3:c.2845del
  • NM_130831.3:c.2737del
  • NM_130832.3:c.2791del
  • NM_130833.3:c.2848del
  • NM_130834.3:c.2899del
  • NM_130835.3:c.2902del
  • NM_130836.3:c.2956del
  • NM_130837.3:c.3010delMANE SELECT
  • NP_001341592.1:p.Asp827fs
  • NP_001341593.1:p.Asp826fs
  • NP_056375.2:p.Asp950fs
  • NP_570844.1:p.Asp914fs
  • NP_570845.1:p.Asp932fs
  • NP_570846.1:p.Asp951fs
  • NP_570847.2:p.Asp968fs
  • NP_570848.1:p.Asp969fs
  • NP_570849.2:p.Asp987fs
  • NP_570850.2:p.Asp1005fs
  • LRG_337t1:c.2845del
  • LRG_337:g.103946del
  • NC_000003.11:g.193409878del
  • NM_015560.2:c.2845del
Protein change:
D1005fs
Molecular consequence:
  • NM_001354663.2:c.2476del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354664.2:c.2473del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015560.3:c.2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130831.3:c.2737del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130832.3:c.2791del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130833.3:c.2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130834.3:c.2899del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130835.3:c.2902del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130836.3:c.2956del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130837.3:c.3010del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001475337Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Sep 11, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Inc, SCV001475337.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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