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NM_130837.3(OPA1):c.205C>G (p.Pro69Ala) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 20, 2013
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:
RCV000200222.1

Allele description [Variation Report for NM_130837.3(OPA1):c.205C>G (p.Pro69Ala)]

NM_130837.3(OPA1):c.205C>G (p.Pro69Ala)

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.205C>G (p.Pro69Ala)
Other names:
p.Pro69Ala
HGVS:
  • NC_000003.12:g.193614895C>G
  • NG_011605.1:g.26752C>G
  • NM_001354663.2:c.-168C>G
  • NM_001354664.2:c.-168C>G
  • NM_015560.3:c.205C>G
  • NM_130831.3:c.205C>G
  • NM_130832.3:c.205C>G
  • NM_130833.3:c.205C>G
  • NM_130834.3:c.205C>G
  • NM_130835.3:c.205C>G
  • NM_130836.3:c.205C>G
  • NM_130837.3:c.205C>GMANE SELECT
  • NP_056375.2:p.Pro69Ala
  • NP_056375.2:p.Pro69Ala
  • NP_570844.1:p.Pro69Ala
  • NP_570845.1:p.Pro69Ala
  • NP_570846.1:p.Pro69Ala
  • NP_570847.2:p.Pro69Ala
  • NP_570848.1:p.Pro69Ala
  • NP_570849.2:p.Pro69Ala
  • NP_570850.2:p.Pro69Ala
  • LRG_337t1:c.205C>G
  • LRG_337:g.26752C>G
  • LRG_337p1:p.Pro69Ala
  • NC_000003.11:g.193332684C>G
  • NM_015560.2:c.205C>G
  • p.P69A
Protein change:
P69A
Links:
dbSNP: rs750775588
NCBI 1000 Genomes Browser:
rs750775588
Molecular consequence:
  • NM_001354663.2:c.-168C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354664.2:c.-168C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_015560.3:c.205C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.205C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.205C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.205C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.205C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.205C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.205C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.205C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000251976GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(May 20, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000251976.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

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

Last Updated: Sep 29, 2024