NM_000529.2(MC2R):c.579_581del (p.Tyr193_Val194delinsTer) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 15, 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:: RCV000259861.1

Allele description [Variation Report for NM_000529.2(MC2R):c.579_581del (p.Tyr193_Val194delinsTer)]

NM_000529.2(MC2R):c.579_581del (p.Tyr193_Val194delinsTer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

18p11.21

Genomic location:

Preferred name:

NM_000529.2(MC2R):c.579_581del (p.Tyr193_Val194delinsTer)

HGVS:

NC_000018.10:g.13884938_13884940del
NG_011819.1:g.35597_35599del
NM_000529.2:c.579_581delMANE SELECT
NM_001291911.1:c.579_581del
NP_000520.1:p.Tyr193_Val194delinsTer
NP_001278840.1:p.Tyr193_Val194delinsTer
NC_000018.9:g.13884937_13884939del
NM_000529.2:c.579_581delTGTMANE SELECT

Links:

dbSNP: rs886041294

NCBI 1000 Genomes Browser:

rs886041294

Molecular consequence:

NM_000529.2:c.579_581del - nonsense - [Sequence Ontology: SO:0001587]
NM_001291911.1:c.579_581del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000329649	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 15, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000329649

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 15, 2015)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000329649.5

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

Description

The c.579_581delTGT variant in the MC2R gene has been reported previously in the homozygous state in several individuals from a consanguineous kindred with glucocorticoid deficiency-1 and a clinical diagnosis of salt-losing adrenal hypoplasia (Lin et al., 2007). The c.579_581delTGT variant causes an in-frame deletion of a single amino acid and is predicted to cause loss of normal protein function through protein truncation. The c.579_581delTGT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.579_581delTGT as a pathogenic variant.

#	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 23, 2022

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