NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 18, 2023
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:: RCV003560905.1

Allele description

NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)

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.922T>C (p.Ser308Pro)

HGVS:

NC_000008.11:g.142914296A>G
NG_008374.1:g.8548T>C
NG_046133.1:g.10939A>G
NM_000498.3:c.922T>CMANE SELECT
NP_000489.3:p.Ser308Pro
NC_000008.10:g.143995712A>G

Protein change:

S308P

Links:

dbSNP: rs1351295710

NCBI 1000 Genomes Browser:

rs1351295710

Molecular consequence:

NM_000498.3:c.922T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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FAM177A1 family with sequence similarity 177 member A1 [Homo sapiens]
FAM177A1 family with sequence similarity 177 member A1 [Homo sapiens]
Gene ID:283635

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004295957	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Mar 18, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19116236, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004295957

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Mar 18, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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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

Citations

PubMed

A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.

Løvås K, McFarlane I, Nguyen HH, Curran S, Schwabe J, Halsall D, Bernhardt R, Wallace AM, Chatterjee VK.

J Clin Endocrinol Metab. 2009 Mar;94(3):914-9. doi: 10.1210/jc.2008-1524. Epub 2008 Dec 30.

PubMed [citation]

PMID:: 19116236

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004295957.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant is present in population databases (no rsID available, gnomAD 0.003%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects CYP11B2 function (PMID: 19116236). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CYP11B2 protein function. ClinVar contains an entry for this variant (Variation ID: 1697321). This missense change has been observed in individual(s) with clnical features of aldosterone synthase deficiency (PMID: 19116236). It has also been observed to segregate with disease in related individuals. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 308 of the CYP11B2 protein (p.Ser308Pro).

#	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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