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NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000492864.4
Variation ID:
492864
Description:
single nucleotide variant
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NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)

Allele ID
485789
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18p11.21
Genomic location
18: 13885439 (GRCh38) GRCh38 UCSC
18: 13885438 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.13885439G>C
NC_000018.9:g.13885438G>C
NM_000529.2:c.80C>G MANE Select NP_000520.1:p.Pro27Arg missense
... more HGVS
Protein change
P27R
Other names
-
Canonical SPDI
NC_000018.10:13885438:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00384
Trans-Omics for Precision Medicine (TOPMed) 0.00279
1000 Genomes Project 0.00120
Links
dbSNP: rs28926178
ClinGen: CA8902545
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV000971335.2
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV001124316.1
Uncertain significance 1 no assertion criteria provided Jan 6, 2017 RCV000581582.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MC2R - - GRCh38
GRCh37
153 230

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001118976.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
ACTH resistance
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001283253.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Jan 06, 2017)
no assertion criteria provided
Method: clinical testing
Glucocorticoid Deficiency
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000692307.1
Submitted: (Jan 31, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs28926178...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 05, 2020