NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly) AND Corticosterone methyl oxidase type II deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 9, 2020
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:: RCV001278113.1

Allele description [Variation Report for NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly)]

NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly)

Genes:

LOC106799834:CYP11B2 recombination region [Gene]
CYP11B2:cytochrome P450 family 11 subfamily B member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly)

HGVS:

NC_000008.11:g.142913376T>C
NG_008374.1:g.9468A>G
NG_046133.1:g.10019T>C
NM_000498.3:c.1030A>GMANE SELECT
NP_000489.3:p.Ser344Gly
NC_000008.10:g.143994792T>C

Protein change:

S344G

Links:

dbSNP: rs770281644

NCBI 1000 Genomes Browser:

rs770281644

Molecular consequence:

NM_000498.3:c.1030A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Corticosterone methyl oxidase type II deficiency
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001465108	Natera, Inc.	no assertion criteria provided	Uncertain significance (Oct 9, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001465108

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Oct 9, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001465108.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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