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NM_001395413.1(POR):c.889G>A (p.Glu297Lys) AND Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 31, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV001160551.12

Allele description [Variation Report for NM_001395413.1(POR):c.889G>A (p.Glu297Lys)]

NM_001395413.1(POR):c.889G>A (p.Glu297Lys)

Genes:
LOC126860075:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286 [Gene]
POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
NM_001395413.1(POR):c.889G>A (p.Glu297Lys)
HGVS:
  • NC_000007.14:g.75983587G>A
  • NG_008930.1:g.73486G>A
  • NM_001367562.3:c.889G>A
  • NM_001382655.3:c.943G>A
  • NM_001382657.2:c.889G>A
  • NM_001382658.3:c.889G>A
  • NM_001382659.3:c.889G>A
  • NM_001382662.3:c.889G>A
  • NM_001395413.1:c.889G>AMANE SELECT
  • NP_001354491.2:p.Glu297Lys
  • NP_001369584.2:p.Glu315Lys
  • NP_001369586.2:p.Glu297Lys
  • NP_001369587.2:p.Glu297Lys
  • NP_001369588.2:p.Glu297Lys
  • NP_001369591.2:p.Glu297Lys
  • NP_001382342.1:p.Glu297Lys
  • NC_000007.13:g.75612905G>A
  • NM_000941.2:c.898G>A
Protein change:
E297K
Links:
dbSNP: rs11540674
NCBI 1000 Genomes Browser:
rs11540674
Molecular consequence:
  • NM_001367562.3:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382655.3:c.943G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382657.2:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382658.3:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382659.3:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382662.3:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001395413.1:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Synonyms:
DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY; Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Identifiers:
MONDO: MONDO:0013310; MedGen: C1860042; OMIM: 613571

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001322361Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV001717104Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Jan 31, 2024)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations.

Tomkov√° M, Marohnic CC, Gurwitz D, Seda O, Masters BS, Mart√°sek P.

Pharmacogenomics. 2012 Apr;13(5):543-54. doi: 10.2217/pgs.12.21.

PubMed [citation]
PMID:
22462747
PMCID:
PMC4270371

Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.

Huang N, Agrawal V, Giacomini KM, Miller WL.

Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1733-8. doi: 10.1073/pnas.0711621105. Epub 2008 Jan 29.

PubMed [citation]
PMID:
18230729
PMCID:
PMC2234213
See all PubMed Citations (5)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001322361.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

From Invitae, SCV001717104.4

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

Last Updated: Feb 28, 2024