NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 21, 2022
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:: RCV001219956.7

Allele description [Variation Report for NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)]

NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)

Genes:

LOC106799833:CYP11B1 recombination region [Gene]
CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)

HGVS:

NC_000008.11:g.142875298C>A
NG_007954.1:g.9523G>T
NG_046132.1:g.1165C>A
NM_000497.4:c.1136G>TMANE SELECT
NM_001026213.1:c.1136G>T
NP_000488.3:p.Gly379Val
NP_001021384.1:p.Gly379Val
NC_000008.10:g.143956714C>A
NM_000497.3:c.1136G>T

Protein change:

G379V

Links:

dbSNP: rs1816901292

NCBI 1000 Genomes Browser:

rs1816901292

Molecular consequence:

NM_000497.4:c.1136G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001026213.1:c.1136G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001391924	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Mar 21, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20331679, 25911436, 28228528, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001391924

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Mar 21, 2022)

germline

clinical testing

PubMed (4)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

Kharrat M, Trabelsi S, Chaabouni M, Maazoul F, Kraoua L, Ben Jemaa L, Gandoura N, Barsaoui S, Morel Y, M'rad R, Chaabouni H.

Clin Genet. 2010 Oct;78(4):398-401. doi: 10.1111/j.1399-0004.2010.01403.x.

PubMed [citation]

PMID:: 20331679

Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.

Wang X, Nie M, Lu L, Tong A, Chen S, Lu Z.

Steroids. 2015 Aug;100:11-6. doi: 10.1016/j.steroids.2015.04.003. Epub 2015 Apr 21.

PubMed [citation]

PMID:: 25911436

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001391924.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 379 of the CYP11B1 protein (p.Gly379Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with congenital adrenal hyperplasia (PMID: 20331679, 25911436, 28228528). ClinVar contains an entry for this variant (Variation ID: 948654). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

#	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: Sep 29, 2024

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