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NM_000529.2(MC2R):c.560del (p.Val187fs) AND Glucocorticoid Deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 10, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000583526.1

Allele description [Variation Report for NM_000529.2(MC2R):c.560del (p.Val187fs)]

NM_000529.2(MC2R):c.560del (p.Val187fs)

Gene:
MC2R:melanocortin 2 receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18p11.21
Genomic location:
Preferred name:
NM_000529.2(MC2R):c.560del (p.Val187fs)
HGVS:
  • NC_000018.10:g.13884959del
  • NG_011819.1:g.35578del
  • NM_000529.2:c.560delMANE SELECT
  • NM_001291911.1:c.560del
  • NP_000520.1:p.Val187fs
  • NP_001278840.1:p.Val187fs
  • NC_000018.9:g.13884958del
  • NM_000529.2:c.560delTMANE SELECT
Protein change:
V187fs
Links:
dbSNP: rs1555619406
NCBI 1000 Genomes Browser:
rs1555619406
Molecular consequence:
  • NM_000529.2:c.560del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001291911.1:c.560del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Glucocorticoid Deficiency
Identifiers:
MedGen: C1955741

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000692314Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(Dec 10, 2015)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692314.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022