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NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp) AND Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 20, 2019
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:
RCV001030014.2

Allele description [Variation Report for NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp)]

NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp)

Gene:
MSTO1:misato mitochondrial distribution and morphology regulator 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp)
HGVS:
  • NC_000001.11:g.155611993C>T
  • NM_001256532.1:c.571C>T
  • NM_001256533.1:c.571C>T
  • NM_001350772.1:c.571C>T
  • NM_001350773.1:c.571C>T
  • NM_001350774.1:c.571C>T
  • NM_001350775.1:c.571C>T
  • NM_001350776.1:c.406C>T
  • NM_001350777.1:c.40C>T
  • NM_001350778.1:c.40C>T
  • NM_001350779.1:c.40C>T
  • NM_001350780.1:c.37C>T
  • NM_001350781.1:c.37C>T
  • NM_001350782.1:c.37C>T
  • NM_001350783.1:c.37C>T
  • NM_001350784.1:c.28C>T
  • NM_001350785.1:c.28C>T
  • NM_001350786.1:c.37C>T
  • NM_001350787.1:c.28C>T
  • NM_001350788.1:c.37C>T
  • NM_001350789.1:c.28C>T
  • NM_018116.4:c.571C>TMANE SELECT
  • NP_001243461.1:p.Arg191Trp
  • NP_001243462.1:p.Arg191Trp
  • NP_001337701.1:p.Arg191Trp
  • NP_001337702.1:p.Arg191Trp
  • NP_001337703.1:p.Arg191Trp
  • NP_001337704.1:p.Arg191Trp
  • NP_001337705.1:p.Arg136Trp
  • NP_001337706.1:p.Arg14Trp
  • NP_001337707.1:p.Arg14Trp
  • NP_001337708.1:p.Arg14Trp
  • NP_001337709.1:p.Arg13Trp
  • NP_001337710.1:p.Arg13Trp
  • NP_001337711.1:p.Arg13Trp
  • NP_001337712.1:p.Arg13Trp
  • NP_001337713.1:p.Arg10Trp
  • NP_001337714.1:p.Arg10Trp
  • NP_001337715.1:p.Arg13Trp
  • NP_001337716.1:p.Arg10Trp
  • NP_001337717.1:p.Arg13Trp
  • NP_001337718.1:p.Arg10Trp
  • NP_060586.2:p.Arg191Trp
  • NC_000001.10:g.155581784C>T
  • NM_018116.3:c.571C>T
  • NR_046292.1:n.772C>T
  • NR_046293.1:n.714C>T
  • NR_046294.1:n.636C>T
  • NR_046295.1:n.574C>T
  • NR_146907.1:n.650C>T
  • NR_146908.1:n.650C>T
Protein change:
R10W
Links:
dbSNP: rs777651549
NCBI 1000 Genomes Browser:
rs777651549
Molecular consequence:
  • NM_001256532.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256533.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350772.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350773.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350774.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350775.1:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350776.1:c.406C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350777.1:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350778.1:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350779.1:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350780.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350781.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350782.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350783.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350784.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350785.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350786.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350787.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350788.1:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350789.1:c.28C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018116.4:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046292.1:n.772C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046293.1:n.714C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046294.1:n.636C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046295.1:n.574C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146907.1:n.650C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146908.1:n.650C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Synonyms:
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
Identifiers:
MONDO: MONDO:0044714; MedGen: C4540096; OMIM: 617675

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190367Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Care Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 20, 2019) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinesematernalyes21not providednot providednot providedclinical 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 Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Care Hospital, SCV001190367.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided2not provided1not provided

Last Updated: Oct 20, 2024