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NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Mar 9, 2020)
Last evaluated:
Jan 22, 2020
Accession:
VCV000492860.2
Variation ID:
492860
Description:
2bp deletion
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NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer)

Allele ID
485793
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
18q21.32
Genomic location
18: 60372286-60372287 (GRCh38) GRCh38 UCSC
18: 58039519-58039520 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.60372287_60372288del
NC_000018.9:g.58039520_58039521del
NG_016441.1:g.5482_5483del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000018.10:60372285:TGT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA8980992
dbSNP: rs770293321
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 no assertion criteria provided Jan 22, 2020 RCV000582390.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MC4R - - GRCh38
GRCh37
109 181

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 08, 2016)
no assertion criteria provided
Method: clinical testing
Obesity
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000692293.1
Submitted: (Jan 31, 2018)
Evidence details
Uncertain significance
(Jan 22, 2020)
no assertion criteria provided
Method: curation
Obesity
(Autosomal dominant inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001422869.1
Submitted: (Mar 09, 2020)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
The p.Tyr21Terfs variant in MC4R has not been previously reported in individuals with obesity and has been identified in 0.007% (2/30616) of South Asian chromosomes … (more)

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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Title Author Journal Year Link
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/9f562fc1-bf02-4405-acfe-48f657895fe9 - - - -

Text-mined citations for rs770293321...

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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 Sep 06, 2021