NM_130837.3(OPA1):c.113_130dup (p.Arg38_Ser43dup) AND Tip-toe gait

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 18, 2021
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:: RCV001823088.1

Allele description [Variation Report for NM_130837.3(OPA1):c.113_130dup (p.Arg38_Ser43dup)]

NM_130837.3(OPA1):c.113_130dup (p.Arg38_Ser43dup)

Gene:

OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q29

Genomic location:

Preferred name:

NM_130837.3(OPA1):c.113_130dup (p.Arg38_Ser43dup)

HGVS:

NC_000003.12:g.193614803_193614820dup
NG_011605.1:g.26660_26677dup
NM_001354663.2:c.-260_-243dup
NM_001354664.2:c.-260_-243dup
NM_015560.3:c.113_130dup
NM_130831.3:c.113_130dup
NM_130832.3:c.113_130dup
NM_130833.3:c.113_130dup
NM_130834.3:c.113_130dup
NM_130835.3:c.113_130dup
NM_130836.3:c.113_130dup
NM_130837.3:c.113_130dupMANE SELECT
NP_056375.2:p.Arg38_Ser43dup
NP_570844.1:p.Arg38_Ser43dup
NP_570845.1:p.Arg38_Ser43dup
NP_570846.1:p.Arg38_Ser43dup
NP_570847.2:p.Arg38_Ser43dup
NP_570848.1:p.Arg38_Ser43dup
NP_570849.2:p.Arg38_Ser43dup
NP_570850.2:p.Arg38_Ser43dup
LRG_337:g.26660_26677dup
NC_000003.11:g.193332592_193332609dup

Links:

dbSNP: rs863224140

NCBI 1000 Genomes Browser:

rs863224140

Molecular consequence:

NM_001354663.2:c.-260_-243dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354664.2:c.-260_-243dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_015560.3:c.113_130dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130831.3:c.113_130dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130832.3:c.113_130dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130833.3:c.113_130dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130834.3:c.113_130dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130835.3:c.113_130dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130836.3:c.113_130dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_130837.3:c.113_130dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Tip-toe gait
Synonyms:: Toe walking
Identifiers:: MedGen: C0427144; Human Phenotype Ontology: HP:0030051

Recent activity

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Serine palmitoyltransferase 3 [Caenorhabditis elegans]
Serine palmitoyltransferase 3 [Caenorhabditis elegans]
gi|392921660|ref|NP_001256548.1|

Protein
Ictalurus punctatus ribosomal protein L3 (rpl3), mRNA
Ictalurus punctatus ribosomal protein L3 (rpl3), mRNA
gi|319079392|ref|NM_001200104.1|

Nucleotide
PREDICTED: Homo sapiens REX4 homolog, 3'-5' exonuclease (REXO4), transcript vari...
PREDICTED: Homo sapiens REX4 homolog, 3'-5' exonuclease (REXO4), transcript variant X3, mRNA
gi|2217377848|ref|XM_047423608.1|

Nucleotide
cytochrome oxidase subunit 1, partial (mitochondrion) [Lythria purpuraria]
cytochrome oxidase subunit 1, partial (mitochondrion) [Lythria purpuraria]
gi|2698112675|gb|WXB32843.1|

Protein
PREDICTED: Rattus norvegicus MAGUK p55 scaffold protein 2 (Mpp2), transcript var...
PREDICTED: Rattus norvegicus MAGUK p55 scaffold protein 2 (Mpp2), transcript variant X2, mRNA
gi|2678881890|ref|XM_063270001.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002072507	Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 18, 2021)	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

SCV002072507

Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 18, 2021)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino, SCV002072507.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 7, 2023

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