U.S. flag

An official website of the United States government

NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 28, 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:
RCV002513673.9

Allele description [Variation Report for NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu)]

NM_032380.5(GFM2):c.1728T>A (p.Asp576Glu)

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.1728T>A (p.Asp576Glu)
Other names:
p.D576E:GAT>GAA
HGVS:
  • NC_000005.10:g.74726125A>T
  • NG_011531.1:g.46093T>A
  • NM_001281302.2:c.1824T>A
  • NM_032380.5:c.1728T>AMANE SELECT
  • NM_170691.3:c.1587T>A
  • NP_001268231.1:p.Asp608Glu
  • NP_115756.2:p.Asp576Glu
  • NP_733792.1:p.Asp529Glu
  • NC_000005.9:g.74021950A>T
  • NM_032380.3:c.1728T>A
  • NM_032380.4:c.1728T>A
  • NM_170681.1:c.*10639T>A
  • NR_104006.2:n.1793T>A
Protein change:
D529E; ASP576GLU
Links:
OMIM: 606544.0001; dbSNP: rs140077535
NCBI 1000 Genomes Browser:
rs140077535
Molecular consequence:
  • NM_001281302.2:c.1824T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032380.5:c.1728T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170691.3:c.1587T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104006.2:n.1793T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003586927Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 28, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, et al.

Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544.

PubMed [citation]
PMID:
22700954
PMCID:
PMC4442637

Details of each submission

From Ambry Genetics, SCV003586927.2

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

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: Oct 26, 2024