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NM_032578.3(MYPN):c.3124C>T (p.Arg1042Cys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Mar 14, 2019)
Last evaluated:
Feb 4, 2019
Accession:
VCV000155824.4
Variation ID:
155824
Description:
single nucleotide variant
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NM_032578.3(MYPN):c.3124C>T (p.Arg1042Cys)

Allele ID
165576
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q21.3
Genomic location
10: 68195498 (GRCh38) GRCh38 UCSC
10: 69955255 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.69955255C>T
NC_000010.11:g.68195498C>T
NM_001256268.1:c.2242C>T NP_001243197.1:p.Arg748Cys missense
... more HGVS
Protein change
R1042C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00041
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00029
Trans-Omics for Precision Medicine (TOPMed) 0.00041
Exome Aggregation Consortium (ExAC) 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Links
ClinGen: CA345856
dbSNP: rs151282801
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts May 31, 2017 RCV000228976.4
Uncertain significance 1 criteria provided, single submitter Nov 18, 2013 RCV000252987.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 4, 2019 RCV000421407.3
Uncertain significance 1 no assertion criteria provided Oct 15, 2014 RCV000143934.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYPN - - GRCh38
GRCh37
542 557

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 22, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1KK
Allele origin: germline
Genome Diagnostics Laboratory,University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743690.1
Submitted: (Apr 17, 2018)
Evidence details
Uncertain significance
(May 31, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1KK
Allele origin: germline
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745064.1
Submitted: (Apr 09, 2018)
Evidence details
Uncertain significance
(Nov 18, 2013)
criteria provided, single submitter
Method: clinical testing
cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000319023.4
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Uncertain significance
(Dec 10, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000536532.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R1042C variant of uncertain significance in the MYPN gene has not been published as pathogenic or been reported as benign to our knowledge. This ... (more)
Likely benign
(Feb 04, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000291118.3
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Oct 15, 2014)
no assertion criteria provided
Method: clinical testing
Primary familial hypertrophic cardiomyopathy
Allele origin: germline
Blueprint Genetics
Accession: SCV000188812.2
Submitted: (Feb 02, 2015)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
Dilated cardiomyopathy 1KK
Allele origin: germline
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000732958.1
Submitted: (Apr 04, 2018)
Evidence details

Citations for this variant

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

Record last updated Dec 15, 2019