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NM_024996.7(GFM1):c.498C>T (p.Asn166=) AND Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 25, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001836054.1

Allele description [Variation Report for NM_024996.7(GFM1):c.498C>T (p.Asn166=)]

NM_024996.7(GFM1):c.498C>T (p.Asn166=)

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.498C>T (p.Asn166=)
HGVS:
  • NC_000003.12:g.158646873C>T
  • NG_008441.1:g.7346C>T
  • NM_001308164.2:c.498C>T
  • NM_001308166.2:c.498C>T
  • NM_001374355.1:c.498C>T
  • NM_001374356.1:c.498C>T
  • NM_001374357.1:c.273C>T
  • NM_001374358.1:c.234+1092C>T
  • NM_001374359.1:c.5+1092C>T
  • NM_001374360.1:c.5+1092C>T
  • NM_001374361.1:c.5+1092C>T
  • NM_024996.7:c.498C>TMANE SELECT
  • NP_001295093.1:p.Asn166=
  • NP_001295095.1:p.Asn166=
  • NP_001361284.1:p.Asn166=
  • NP_001361285.1:p.Asn166=
  • NP_001361286.1:p.Asn91=
  • NP_079272.4:p.Asn166=
  • NC_000003.11:g.158364662C>T
  • NM_024996.5:c.498C>T
  • NR_164499.1:n.606C>T
  • NR_164500.1:n.606C>T
  • NR_164502.1:n.606C>T
Links:
dbSNP: rs762364300
NCBI 1000 Genomes Browser:
rs762364300
Molecular consequence:
  • NM_001374358.1:c.234+1092C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374359.1:c.5+1092C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374360.1:c.5+1092C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374361.1:c.5+1092C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_164499.1:n.606C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164500.1:n.606C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_164502.1:n.606C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001308164.2:c.498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001308166.2:c.498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374355.1:c.498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374356.1:c.498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374357.1:c.273C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024996.7:c.498C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002081587Natera, Inc.
no assertion criteria provided
Likely benign
(Sep 25, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002081587.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024