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NM_001395413.1(POR):c.674C>T (p.Pro225Leu) AND not specified

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Nov 28, 2017
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:
RCV000501875.20

Allele description [Variation Report for NM_001395413.1(POR):c.674C>T (p.Pro225Leu)]

NM_001395413.1(POR):c.674C>T (p.Pro225Leu)

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.674C>T (p.Pro225Leu)
HGVS:
  • NC_000007.14:g.75981558C>T
  • NG_008930.1:g.71457C>T
  • NM_000941.3:c.683C>T
  • NM_001367562.3:c.674C>T
  • NM_001382655.3:c.728C>T
  • NM_001382657.2:c.674C>T
  • NM_001382658.3:c.674C>T
  • NM_001382659.3:c.674C>T
  • NM_001382662.3:c.674C>T
  • NM_001395413.1:c.674C>TMANE SELECT
  • NP_001354491.2:p.Pro225Leu
  • NP_001369584.2:p.Pro243Leu
  • NP_001369586.2:p.Pro225Leu
  • NP_001369587.2:p.Pro225Leu
  • NP_001369588.2:p.Pro225Leu
  • NP_001369591.2:p.Pro225Leu
  • NP_001382342.1:p.Pro225Leu
  • NC_000007.13:g.75610876C>T
  • NM_000941.2:c.683C>T
Protein change:
P225L
Links:
dbSNP: rs17853284
NCBI 1000 Genomes Browser:
rs17853284
Molecular consequence:
  • NM_001367562.3:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382655.3:c.728C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382657.2:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382658.3:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382659.3:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382662.3:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001395413.1:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000596546Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Sep 20, 2016)
germlineclinical testing

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

SCV000854986Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Likely benign
(Nov 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000596546.1

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

From Eurofins Ntd Llc (ga), SCV000854986.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Jul 7, 2024