NM_000529.2(MC2R):c.410G>C (p.Arg137Pro) AND Glucocorticoid Deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 23, 2009
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:: RCV000581688.1

Allele description [Variation Report for NM_000529.2(MC2R):c.410G>C (p.Arg137Pro)]

NM_000529.2(MC2R):c.410G>C (p.Arg137Pro)

Gene:

MC2R:melanocortin 2 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.21

Genomic location:

Preferred name:

NM_000529.2(MC2R):c.410G>C (p.Arg137Pro)

HGVS:

NC_000018.10:g.13885109C>G
NG_011819.1:g.35428G>C
NM_000529.2:c.410G>CMANE SELECT
NM_001291911.1:c.410G>C
NP_000520.1:p.Arg137Pro
NP_001278840.1:p.Arg137Pro
NC_000018.9:g.13885108C>G

Protein change:

R137P

Links:

dbSNP: rs1208417750

NCBI 1000 Genomes Browser:

rs1208417750

Molecular consequence:

NM_000529.2:c.410G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001291911.1:c.410G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glucocorticoid Deficiency
Identifiers:: MedGen: C1955741

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692310	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Pathogenic (Jan 23, 2009)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692310

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Pathogenic
(Jan 23, 2009)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692310.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 7, 2025

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