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NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 21, 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:
RCV003156063.3

Allele description [Variation Report for NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)]

NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)

Gene:
GFM1:G elongation factor mitochondrial 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q25.32
Genomic location:
Preferred name:
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
HGVS:
  • NC_000003.12:g.158652154C>T
  • NG_008441.1:g.12627C>T
  • NM_001308164.2:c.805C>T
  • NM_001308166.2:c.748C>T
  • NM_001374355.1:c.805C>T
  • NM_001374356.1:c.631C>T
  • NM_001374357.1:c.523C>T
  • NM_001374358.1:c.289C>T
  • NM_001374359.1:c.181C>T
  • NM_001374360.1:c.181C>T
  • NM_001374361.1:c.64C>T
  • NM_024996.7:c.748C>TMANE SELECT
  • NP_001295093.1:p.Arg269Trp
  • NP_001295095.1:p.Arg250Trp
  • NP_001361284.1:p.Arg269Trp
  • NP_001361285.1:p.Arg211Trp
  • NP_001361286.1:p.Arg175Trp
  • NP_001361287.1:p.Arg97Trp
  • NP_001361288.1:p.Arg61Trp
  • NP_001361289.1:p.Arg61Trp
  • NP_001361290.1:p.Arg22Trp
  • NP_079272.4:p.Arg250Trp
  • NP_079272.4:p.Arg250Trp
  • NC_000003.11:g.158369943C>T
  • NM_024996.5:c.748C>T
  • NR_164499.1:n.856C>T
  • NR_164500.1:n.856C>T
  • NR_164501.1:n.401C>T
  • NR_164502.1:n.739C>T
  • Q96RP9:p.Arg250Trp
Protein change:
R175W; ARG250TRP
Links:
UniProtKB: Q96RP9#VAR_076198; OMIM: 606639.0004; dbSNP: rs139430866
NCBI 1000 Genomes Browser:
rs139430866
Molecular consequence:
  • NM_001308164.2:c.805C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308166.2:c.748C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374355.1:c.805C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374356.1:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374357.1:c.523C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374358.1:c.289C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374359.1:c.181C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374360.1:c.181C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374361.1:c.64C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024996.7:c.748C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164499.1:n.856C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164500.1:n.856C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164501.1:n.401C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164502.1:n.739C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003845283Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 21, 2022) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot 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 Center for Personalized Medicine, Children's Hospital Los Angeles, SCV003845283.1

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

Last Updated: Sep 29, 2024