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NM_032380.5(GFM2):c.2020G>A (p.Val674Met) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 13, 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:
RCV004020400.1

Allele description [Variation Report for NM_032380.5(GFM2):c.2020G>A (p.Val674Met)]

NM_032380.5(GFM2):c.2020G>A (p.Val674Met)

Gene:
GFM2:GTP dependent ribosome recycling factor mitochondrial 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.3
Genomic location:
Preferred name:
NM_032380.5(GFM2):c.2020G>A (p.Val674Met)
Other names:
p.V674M:GTG>ATG
HGVS:
  • NC_000005.10:g.74725648C>T
  • NG_011531.1:g.46570G>A
  • NM_001281302.2:c.2116G>A
  • NM_032380.5:c.2020G>AMANE SELECT
  • NM_170691.3:c.1879G>A
  • NP_001268231.1:p.Val706Met
  • NP_115756.2:p.Val674Met
  • NP_733792.1:p.Val627Met
  • NC_000005.9:g.74021473C>T
  • NM_032380.3:c.2020G>A
  • NM_032380.4:c.2020G>A
  • NM_170681.1:c.*11116G>A
  • NR_104006.2:n.2085G>A
Protein change:
V627M
Links:
dbSNP: rs367960522
NCBI 1000 Genomes Browser:
rs367960522
Molecular consequence:
  • NM_001281302.2:c.2116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032380.5:c.2020G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170691.3:c.1879G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104006.2:n.2085G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004875080Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 13, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004875080.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024