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NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs) AND Deficiency of steroid 11-beta-monooxygenase

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 5, 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:
RCV002309563.2

Allele description [Variation Report for NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)]

NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)

Genes:
LOC106799833:CYP11B1 recombination region [Gene]
CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)
HGVS:
  • NC_000008.11:g.142876383_142876384insATCCCTCT
  • NG_007954.1:g.8437_8438insAGAGGGAT
  • NG_046132.1:g.2250_2251insATCCCTCT
  • NM_000497.4:c.811_812insAGAGGGATMANE SELECT
  • NM_001026213.1:c.811_812insAGAGGGAT
  • NP_000488.3:p.Ile271fs
  • NP_001021384.1:p.Ile271fs
  • NC_000008.10:g.143957799_143957800insATCCCTCT
Protein change:
I271fs
Molecular consequence:
  • NM_000497.4:c.811_812insAGAGGGAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001026213.1:c.811_812insAGAGGGAT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Deficiency of steroid 11-beta-monooxygenase (CYP11B1)
Synonyms:
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; 11-beta-hydroxylase deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008729; MedGen: C0268292; OMIM: 202010

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002603440Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Feb 5, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002603440.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000497.3(CYP11B1):c.811_812ins8(I271Kfs*28) is expected to be pathogenic in the context of congenital adrenal hyperplasia, CYP11B1-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CYP11B1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2022