NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Dec 1, 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:
RCV000711398.5

Allele description [Variation Report for NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)]

NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)

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.1451T>A (p.Val484Asp)
HGVS:
  • NC_000008.11:g.142874434A>T
  • NG_007954.1:g.10387T>A
  • NG_046132.1:g.301A>T
  • NM_000497.4:c.1451T>AMANE SELECT
  • NM_001026213.1:c.1253T>A
  • NP_000488.3:p.Val484Asp
  • NP_000488.3:p.Val484Asp
  • NP_001021384.1:p.Val418Asp
  • NC_000008.10:g.143955850A>T
  • NM_000497.3:c.1451T>A
Protein change:
V418D
Links:
dbSNP: rs374517238
NCBI 1000 Genomes Browser:
rs374517238
Molecular consequence:
  • NM_000497.4:c.1451T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001026213.1:c.1253T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000841762Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Jul 11, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001092215Invitaecriteria provided, single submitter
Benign
(Dec 1, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.

Shammas C, Byrou S, Phelan MM, Toumba M, Stylianou C, Skordis N, Neocleous V, Phylactou LA.

Hormones (Athens). 2016 Apr;15(2):235-242. doi: 10.14310/horm.2002.1651.

PubMed [citation]
PMID:
27376426

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 (3)

Details of each submission

From Athena Diagnostics Inc, SCV000841762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001092215.3

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

Last Updated: Dec 4, 2021

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