NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 16, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000727184.3

Allele description [Variation Report for NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)]

NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)

Gene:
CYP27A1:cytochrome P450 family 27 subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
HGVS:
  • NC_000002.12:g.218814972G>A
  • NG_007959.1:g.38224G>A
  • NM_000784.4:c.1538G>AMANE SELECT
  • NP_000775.1:p.Arg513His
  • NC_000002.11:g.219679695G>A
  • NM_000784.3:c.1538G>A
Protein change:
R513H
Links:
dbSNP: rs144701596
NCBI 1000 Genomes Browser:
rs144701596
Molecular consequence:
  • NM_000784.4:c.1538G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000617409GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 16, 2020)
germlineclinical testing

Citation Link,

SCV000706462EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 19, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000617409.2

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22878431, 26153518, 28324197, 28623566)

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000706462.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 26, 2021

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