NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 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:: RCV001059131.6

Allele description [Variation Report for NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter)]

NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter)

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.763G>T (p.Glu255Ter)

HGVS:

NC_000008.11:g.142914741C>A
NG_008374.1:g.8103G>T
NG_046133.1:g.11384C>A
NM_000498.3:c.763G>TMANE SELECT
NP_000489.3:p.Glu255Ter
NC_000008.10:g.143996157C>A

Protein change:

E255*; GLU255TER

Links:

OMIM: 124080.0006; dbSNP: rs121912977

NCBI 1000 Genomes Browser:

rs121912977

Molecular consequence:

NM_000498.3:c.763G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens C-terminal binding protein 1 (CTBP1), RefSeqGene on chromosome 4
Homo sapiens C-terminal binding protein 1 (CTBP1), RefSeqGene on chromosome 4
gi|1139871826|ref|NG_052824.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001223741	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 1, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 20494601, 22801770, 26936515, 9703385, 15240589, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001223741

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 1, 2023)

germline

clinical testing

PubMed (6)
[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

Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses.

Nguyen HH, Hannemann F, Hartmann MF, Malunowicz EM, Wudy SA, Bernhardt R.

Mol Genet Metab. 2010 Aug;100(4):357-64. doi: 10.1016/j.ymgme.2010.04.016. Epub 2010 May 21.

PubMed [citation]

PMID:: 20494601

Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.

Klomchan T, Supornsilchai V, Wacharasindhu S, Shotelersuk V, Sahakitrungruang T.

Eur J Pediatr. 2012 Oct;171(10):1559-62. Epub 2012 Jul 17.

PubMed [citation]

PMID:: 22801770

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001223741.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Glu255*) in the CYP11B2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP11B2 are known to be pathogenic (PMID: 20494601, 22801770, 26936515). This variant is present in population databases (rs121912977, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with aldosterone synthase deficiency (PMID: 9703385, 15240589). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 16880). For these reasons, this variant has been classified as 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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