NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jun 13, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000516213.2

Allele description [Variation Report for NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)]

NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)

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.954G>A (p.Thr318=)
HGVS:
  • NC_000008.11:g.142876241C>T
  • NG_007954.1:g.8580G>A
  • NG_046132.1:g.2108C>T
  • NM_000497.4:c.954G>AMANE SELECT
  • NM_001026213.1:c.954G>A
  • NP_000488.3:p.Thr318=
  • NP_000488.3:p.Thr318=
  • NP_001021384.1:p.Thr318=
  • NC_000008.10:g.143957657C>T
  • NM_000497.3:c.954G>A
Links:
dbSNP: rs753774484
NCBI 1000 Genomes Browser:
rs753774484
Molecular consequence:
  • NM_000497.4:c.954G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001026213.1:c.954G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000613046Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Dec 1, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001581360Invitaecriteria provided, single submitter
Pathogenic
(Jun 13, 2020)
germlineclinical testing

PubMed (6)
[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

Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene.

Skinner CA, Rumsby G, Honour JW.

J Clin Endocrinol Metab. 1996 Jun;81(6):2389-93.

PubMed [citation]
PMID:
8964882

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317
See all PubMed Citations (8)

Details of each submission

From Athena Diagnostics Inc, SCV000613046.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001581360.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change affects codon 318 of the CYP11B1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CYP11B1 protein. This variant also falls at the last nucleotide of exon 5 of the CYP11B1 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with adrenal hyperplasia (PMID: 29858860, 31006099, 26956189). ClinVar contains an entry for this variant (Variation ID: 447228). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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: Dec 4, 2021

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