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NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 2022
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:
RCV002241379.5

Allele description [Variation Report for NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln)]

NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln)

Gene:
MTRFR:mitochondrial translation release factor in rescue [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln)
HGVS:
  • NC_000012.12:g.123253745G>A
  • NG_027517.1:g.25449G>A
  • NM_001143905.2:c.71G>A
  • NM_001194995.1:c.71G>A
  • NM_152269.5:c.71G>AMANE SELECT
  • NP_001137377.1:p.Arg24Gln
  • NP_001181924.1:p.Arg24Gln
  • NP_689482.1:p.Arg24Gln
  • NC_000012.11:g.123738292G>A
  • NM_152269.4:c.71G>A
Protein change:
R24Q
Links:
dbSNP: rs144150548
NCBI 1000 Genomes Browser:
rs144150548
Molecular consequence:
  • NM_001143905.2:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001194995.1:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152269.5:c.71G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined oxidative phosphorylation defect type 7
Synonyms:
Combined oxidative phosphorylation deficiency 7
Identifiers:
MONDO: MONDO:0013306; MedGen: C3150801; Orphanet: 254930; OMIM: 613559
Name:
Spastic paraplegia
Identifiers:
MedGen: C0037772; Human Phenotype Ontology: HP:0001258

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002509443Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 17, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002509443.2

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

Description

This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 24 of the C12orf65 protein (p.Arg24Gln). This variant is present in population databases (rs144150548, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. ClinVar contains an entry for this variant (Variation ID: 1212115). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2024