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NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 21, 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:
RCV001781383.5

Allele description [Variation Report for NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)]

NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)

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.427C>T (p.Arg143Trp)
HGVS:
  • NC_000008.11:g.142877191G>A
  • NG_007954.1:g.7630C>T
  • NG_046132.1:g.3058G>A
  • NM_000497.3:c.[427C>T]
  • NM_000497.4:c.427C>TMANE SELECT
  • NM_001026213.1:c.427C>T
  • NP_000488.3:p.Arg143Trp
  • NP_000488.3:p.Arg143Trp
  • NP_001021384.1:p.Arg143Trp
  • NC_000008.10:g.143958607G>A
  • NM_000497.3:c.427C>T
  • NM_000497.3:c.[427C>T]
  • NM_000497.4:c.427C>T
  • P15538:p.Arg143Trp
Protein change:
R143W
Links:
UniProtKB: P15538#VAR_074503; dbSNP: rs140336749
NCBI 1000 Genomes Browser:
rs140336749
Molecular consequence:
  • NM_000497.4:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001026213.1:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002184742Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Dec 21, 2023)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Menabò S, Polat S, Baldazzi L, Kulle AE, Holterhus PM, Grötzinger J, Fanelli F, Balsamo A, Riepe FG.

Eur J Hum Genet. 2014 May;22(5):610-6. doi: 10.1038/ejhg.2013.197. Epub 2013 Sep 11. Erratum in: Eur J Hum Genet. 2020 May;28(5):692. doi: 10.1038/s41431-020-0587-y.

PubMed [citation]
PMID:
24022297
PMCID:
PMC3992560

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

Mooij CF, Parajes S, Rose IT, Taylor AE, Bayraktaroglu T, Wass JA, Connell JM, Ray DW, Arlt W, Krone N.

Clin Endocrinol (Oxf). 2015 Nov;83(5):629-35. doi: 10.1111/cen.12834. Epub 2015 Jul 14.

PubMed [citation]
PMID:
26053152
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV002184742.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 143 of the CYP11B1 protein (p.Arg143Trp). This variant is present in population databases (rs140336749, gnomAD 0.1%). This missense change has been observed in individuals with clinical features of adrenal hyperplasia (PMID: 23940125, 24022297, 26053152). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 56831). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CYP11B1 protein function. Experimental studies have shown that this missense change affects CYP11B1 function (PMID: 23940125). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jun 17, 2024