NM_001379228.1(MRAP):c.106+1del AND Glucocorticoid deficiency 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 4, 2017
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:: RCV000513343.5

Allele description [Variation Report for NM_001379228.1(MRAP):c.106+1del]

NM_001379228.1(MRAP):c.106+1del

Gene:

MRAP:melanocortin 2 receptor accessory protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

21q22.11

Genomic location:

Preferred name:

NM_001379228.1(MRAP):c.106+1del

HGVS:

NC_000021.9:g.32299078del
NG_016234.1:g.12266del
NM_001285394.2:c.-72+5946del
NM_001379228.1:c.106+1delMANE SELECT
NM_178817.4:c.106+1del
NM_206898.2:c.106+1del
NC_000021.8:g.33671389del

Nucleotide change:

IVS3, G DEL, +1

Links:

OMIM: 609196.0004; dbSNP: rs1476574441

NCBI 1000 Genomes Browser:

rs1476574441

Molecular consequence:

NM_001285394.2:c.-72+5946del - intron variant - [Sequence Ontology: SO:0001627]
NM_001379228.1:c.106+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_178817.4:c.106+1del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_206898.2:c.106+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000608363	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Oct 4, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000608363

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Oct 4, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000608363.1

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

Last Updated: Jun 23, 2024

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