NM_001395413.1(POR):c.1707G>A (p.Ser569=) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Germline classification:: Benign (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001292551.10

Allele description [Variation Report for NM_001395413.1(POR):c.1707G>A (p.Ser569=)]

NM_001395413.1(POR):c.1707G>A (p.Ser569=)

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.1707G>A (p.Ser569=)

HGVS:

NC_000007.14:g.75985969G>A
NG_008930.1:g.75868G>A
NM_001367562.3:c.1707G>A
NM_001382655.3:c.1761G>A
NM_001382657.2:c.1707G>A
NM_001382658.3:c.1707G>A
NM_001382659.3:c.1707G>A
NM_001382662.3:c.1557G>A
NM_001395413.1:c.1707G>AMANE SELECT
NP_001354491.2:p.Ser569=
NP_001369584.2:p.Ser587=
NP_001369586.2:p.Ser569=
NP_001369587.2:p.Ser569=
NP_001369588.2:p.Ser569=
NP_001369591.2:p.Ser519=
NP_001382342.1:p.Ser569=
NC_000007.13:g.75615287G>A
NM_000941.2:c.1716G>A
NW_003871064.1:g.3515205G>A
NW_003871064.1:g.3515205G>A
p.Ser572Ser

Links:

dbSNP: rs1057870

NCBI 1000 Genomes Browser:

rs1057870

Molecular consequence:

NM_001367562.3:c.1707G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001382655.3:c.1761G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001382657.2:c.1707G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001382658.3:c.1707G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001382659.3:c.1707G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001382662.3:c.1557G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001395413.1:c.1707G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Synonyms:: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; CYP21 deficiency; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Identifiers:: MONDO: MONDO:0008728; MedGen: C2936858; Orphanet: 90794; OMIM: 201910

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001432707	Pecori Giraldi Lab, University of Milan	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	case-control	PubMed (5) [See all records that cite these PMIDs] 27068427, 21070833, 24847272, 25741868, 33666875

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001432707

Pecori Giraldi Lab, University of Milan

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

case-control

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	case-control
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	case-control

Citations

PubMed

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.

Burkhard FZ, Parween S, Udhane SS, Flück CE, Pandey AV.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):38-50. doi: 10.1016/j.jsbmb.2016.04.003. Epub 2016 Apr 8.

PubMed [citation]

PMID:: 27068427

Consequences of POR mutations and polymorphisms.

Miller WL, Agrawal V, Sandee D, Tee MK, Huang N, Choi JH, Morrissey K, Giacomini KM.

Mol Cell Endocrinol. 2011 Apr 10;336(1-2):174-9. doi: 10.1016/j.mce.2010.10.022. Epub 2010 Nov 9.

PubMed [citation]

PMID:: 21070833
PMCID:: PMC4632974

See all PubMed Citations (5)

Details of each submission

From Pecori Giraldi Lab, University of Milan, SCV001432707.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (5)
2	not provided	not provided	not provided	not provided	case-control	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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