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NM_018233.4(OGFOD1):c.844C>A (p.Gln282Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 19, 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:
RCV004215618.1

Allele description [Variation Report for NM_018233.4(OGFOD1):c.844C>A (p.Gln282Lys)]

NM_018233.4(OGFOD1):c.844C>A (p.Gln282Lys)

Gene:
OGFOD1:2-oxoglutarate and iron dependent oxygenase domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_018233.4(OGFOD1):c.844C>A (p.Gln282Lys)
HGVS:
  • NC_000016.10:g.56467962C>A
  • NM_001031707.1:c.844C>A
  • NM_001324357.2:c.841C>A
  • NM_001324358.2:c.679C>A
  • NM_001324359.1:c.553C>A
  • NM_001324360.2:c.553C>A
  • NM_001324361.1:c.679C>A
  • NM_001324362.1:c.424C>A
  • NM_001324363.2:c.786+669C>A
  • NM_018233.4:c.844C>AMANE SELECT
  • NP_001026877.1:p.Gln282Lys
  • NP_001311286.1:p.Gln281Lys
  • NP_001311287.1:p.Gln227Lys
  • NP_001311288.1:p.Gln185Lys
  • NP_001311289.1:p.Gln185Lys
  • NP_001311290.1:p.Gln227Lys
  • NP_001311291.1:p.Gln142Lys
  • NP_060703.3:p.Gln282Lys
  • NC_000016.9:g.56501874C>A
  • NM_018233.3:c.844C>A
Protein change:
Q142K
Molecular consequence:
  • NM_001324363.2:c.786+669C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001031707.1:c.844C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324357.2:c.841C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324358.2:c.679C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324359.1:c.553C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324360.2:c.553C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324361.1:c.679C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324362.1:c.424C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018233.4:c.844C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003717570Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 19, 2022) 		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, SCV003717570.2

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

Description

The c.844C>A (p.Q282K) alteration is located in exon 8 (coding exon 8) of the OGFOD1 gene. This alteration results from a C to A substitution at nucleotide position 844, causing the glutamine (Q) at amino acid position 282 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 24, 2024