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NM_024996.7(GFM1):c.1323+83A>G AND Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 10, 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:
RCV001543947.2

Allele description [Variation Report for NM_024996.7(GFM1):c.1323+83A>G]

NM_024996.7(GFM1):c.1323+83A>G

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.1323+83A>G
HGVS:
  • NC_000003.12:g.158661058A>G
  • NG_008441.1:g.21531A>G
  • NM_001308164.2:c.1380+83A>G
  • NM_001308166.2:c.1323+83A>G
  • NM_001374355.1:c.1242+83A>G
  • NM_001374356.1:c.1206+83A>G
  • NM_001374357.1:c.1098+83A>G
  • NM_001374358.1:c.864+83A>G
  • NM_001374359.1:c.756+83A>G
  • NM_001374360.1:c.756+83A>G
  • NM_001374361.1:c.639+83A>G
  • NM_024996.7:c.1323+83A>GMANE SELECT
  • NC_000003.11:g.158378847A>G
  • NM_024996.5:c.1323+83A>G
Links:
dbSNP: rs2291595
NCBI 1000 Genomes Browser:
rs2291595
Molecular consequence:
  • NM_001308164.2:c.1380+83A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308166.2:c.1323+83A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374355.1:c.1242+83A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374356.1:c.1206+83A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374357.1:c.1098+83A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374358.1:c.864+83A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374359.1:c.756+83A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374360.1:c.756+83A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374361.1:c.639+83A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024996.7:c.1323+83A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Synonyms:
HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE; Combined oxidative phosphorylation deficiency 1
Identifiers:
MONDO: MONDO:0012191; MedGen: C1836797; OMIM: 609060

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001762849Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001762849.1

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

Last Updated: Sep 29, 2024