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NM_152269.5(MTRFR):c.347T>C (p.Val116Ala) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 22, 2017
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:
RCV000660551.5

Allele description [Variation Report for NM_152269.5(MTRFR):c.347T>C (p.Val116Ala)]

NM_152269.5(MTRFR):c.347T>C (p.Val116Ala)

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.347T>C (p.Val116Ala)
HGVS:
  • NC_000012.12:g.123256877T>C
  • NG_027517.1:g.28581T>C
  • NM_001143905.2:c.347T>C
  • NM_001194995.1:c.347T>C
  • NM_152269.5:c.347T>CMANE SELECT
  • NP_001137377.1:p.Val116Ala
  • NP_001181924.1:p.Val116Ala
  • NP_689482.1:p.Val116Ala
  • NC_000012.11:g.123741424T>C
  • NM_152269.4:c.347T>C
Protein change:
V116A
Links:
dbSNP: rs374464556
NCBI 1000 Genomes Browser:
rs374464556
Molecular consequence:
  • NM_001143905.2:c.347T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001194995.1:c.347T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152269.5:c.347T>C - 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:
Hereditary spastic paraplegia 55
Synonyms:
Spastic paraplegia 55, autosomal recessive
Identifiers:
MONDO: MONDO:0014020; MedGen: C3539506; Orphanet: 320375; OMIM: 615035

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000782660Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 22, 2017) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot 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 Mayo Clinic Laboratories, Mayo Clinic, SCV000782660.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023