U.S. flag

An official website of the United States government

NM_000529.2(MC2R):c.674T>G (p.Leu225Arg) AND Glucocorticoid deficiency 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2015
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:
RCV000513542.5

Allele description [Variation Report for NM_000529.2(MC2R):c.674T>G (p.Leu225Arg)]

NM_000529.2(MC2R):c.674T>G (p.Leu225Arg)

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.674T>G (p.Leu225Arg)
HGVS:
  • NC_000018.10:g.13884845A>C
  • NG_011819.1:g.35692T>G
  • NM_000529.2:c.674T>GMANE SELECT
  • NM_001291911.1:c.674T>G
  • NP_000520.1:p.Leu225Arg
  • NP_001278840.1:p.Leu225Arg
  • NC_000018.9:g.13884844A>C
Protein change:
L225R
Links:
dbSNP: rs1555619377
NCBI 1000 Genomes Browser:
rs1555619377
Molecular consequence:
  • NM_000529.2:c.674T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291911.1:c.674T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Glucocorticoid deficiency 1 (GCCD1)
Synonyms:
FAMILIAL GLUCOCORTICOID DEFICIENCY 1; ACTH resistance; Adrenal unresponsiveness to acth; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024536; MedGen: C4049650; Orphanet: 361; OMIM: 202200

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000608358Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Apr 20, 2015) 		inheritedclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000608358.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024