NM_000941.3(POR):c.683C>T (p.Pro228Leu) AND Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Dec 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000755371.6

Allele description [Variation Report for NM_000941.3(POR):c.683C>T (p.Pro228Leu)]

NM_000941.3(POR):c.683C>T (p.Pro228Leu)

Gene:
POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
NM_000941.3(POR):c.683C>T (p.Pro228Leu)
HGVS:
  • NC_000007.14:g.75981558C>T
  • NG_008930.1:g.71457C>T
  • NM_000941.3:c.683C>TMANE SELECT
  • NM_001382657.1:c.683C>T
  • NP_000932.3:p.Pro228Leu
  • NP_001354491.1:p.Pro228Leu
  • NP_001369584.1:p.Pro246Leu
  • NP_001369586.1:p.Pro228Leu
  • NP_001369587.1:p.Pro228Leu
  • NP_001369588.1:p.Pro228Leu
  • NP_001369591.1:p.Pro228Leu
  • NC_000007.13:g.75610876C>T
  • NC_000007.13:g.75610876C>T
  • NM_000941.2:c.683C>T
  • NM_001367562.1:c.683C>T
  • NM_001382655.1:c.737C>T
  • NM_001382658.1:c.683C>T
  • NM_001382659.1:c.683C>T
  • NM_001382662.1:c.683C>T
Protein change:
P228L
Links:
dbSNP: rs17853284
NCBI 1000 Genomes Browser:
rs17853284
Molecular consequence:
  • NM_000941.3:c.683C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382657.1:c.683C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency (ABS1)
Synonyms:
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY; DISORDERED STEROIDOGENESIS DUE TO POR 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
SCV001021777Invitaecriteria provided, single submitter
Likely benign
(Dec 3, 2020)
germlineclinical testing

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

SCV001320888Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

P450 oxidoreductase deficiency: a new disorder of steroidogenesis.

Miller WL, Huang N, Pandey AV, Fl├╝ck CE, Agrawal V.

Ann N Y Acad Sci. 2005 Dec;1061:100-8. Review.

PubMed [citation]
PMID:
16467261
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001021777.3

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

From Illumina Clinical Services Laboratory,Illumina, SCV001320888.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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

Last Updated: Nov 20, 2021

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