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NM_001395413.1(POR):c.723-2A>T AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 16, 2022
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:
RCV003151365.2

Allele description [Variation Report for NM_001395413.1(POR):c.723-2A>T]

NM_001395413.1(POR):c.723-2A>T

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.723-2A>T
HGVS:
  • NC_000007.14:g.75982222A>T
  • NG_008930.1:g.72121A>T
  • NM_000941.2:c.732-2A>T
  • NM_001367562.3:c.723-2A>T
  • NM_001382655.3:c.777-2A>T
  • NM_001382657.2:c.723-2A>T
  • NM_001382658.3:c.723-2A>T
  • NM_001382659.3:c.723-2A>T
  • NM_001382662.3:c.723-2A>T
  • NM_001395413.1:c.723-2A>TMANE SELECT
  • NC_000007.13:g.75611540A>T
Links:
dbSNP: rs782343026
NCBI 1000 Genomes Browser:
rs782343026
Molecular consequence:
  • NM_001367562.3:c.723-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001382655.3:c.777-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001382657.2:c.723-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001382658.3:c.723-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001382659.3:c.723-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001382662.3:c.723-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001395413.1:c.723-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003839909Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Pathogenic
(Aug 16, 2022) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839909.1

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

Description

This sequence change is in the canonical splice acceptor site of intron 7, c.732-2A>T. This sequence change has been described in the gnomAD database with a frequency of 0.015% in the European subpopulation (dbSNP rs782343026). This sequence change has previously been described in individuals with Antley-Bixler syndrome and/or cytochrome P450 oxidoreductase deficiency (PMID: 15793702, 22162478, 26670660). This sequence change is predicted to affect normal splicing of the POR gene and result in an abnormal protein. This sequence change is likely pathogenic, however functional studies have not been performed to prove this conclusively.

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

Last Updated: Sep 29, 2024