NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 17, 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:: RCV001909041.6

Allele description [Variation Report for NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)]

NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)

Genes:

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

Variant type:

Duplication

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)

HGVS:

NC_000008.11:g.142875255_142875256dup
NG_007954.1:g.9566_9567dup
NG_046132.1:g.1122_1123dup
NM_000497.3:c.1179_1180dup
NM_000497.4:c.1179_1180dupMANE SELECT
NM_001026213.1:c.1179_1180dup
NP_000488.3:p.Asn394fs
NP_001021384.1:p.Asn394fs
NC_000008.10:g.143956669_143956670insTC
NC_000008.10:g.143956671_143956672dup
NM_000497.4:c.1179_1180dup

Protein change:

N394fs

Links:

OMIM: 610613.0005; dbSNP: rs758714890

NCBI 1000 Genomes Browser:

rs758714890

Molecular consequence:

NM_000497.4:c.1179_1180dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001026213.1:c.1179_1180dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002172703	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 17, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 8506298, 26476331, 1430088, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002172703

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 17, 2023)

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

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.

Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, White PC, Pascoe L.

Proc Natl Acad Sci U S A. 1993 May 15;90(10):4552-6.

PubMed [citation]

PMID:: 8506298
PMCID:: PMC46550

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

Nguyen HH, Eiden-Plach A, Hannemann F, Malunowicz EM, Hartmann MF, Wudy SA, Bernhardt R.

J Steroid Biochem Mol Biol. 2016 Jan;155(Pt A):126-34. doi: 10.1016/j.jsbmb.2015.10.011. Epub 2015 Oct 22.

PubMed [citation]

PMID:: 26476331

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002172703.3

#	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 creates a premature translational stop signal (p.Asn394Argfs*37) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331). This variant is present in population databases (rs758714890, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with autosomal recessive adrenal hyperplasia (PMID: 1430088). This variant is also known as a 2-bp insertion at codon 394. ClinVar contains an entry for this variant (Variation ID: 1403418). 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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