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NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 18, 2020
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:
RCV000251155.4

Allele description [Variation Report for NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)]

NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)

Gene:
MYPN:myopalladin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
HGVS:
  • NC_000010.11:g.68210325G>A
  • NG_032118.1:g.109209G>A
  • NM_001256267.2:c.3833G>A
  • NM_001256268.2:c.2951G>A
  • NM_032578.4:c.3833G>AMANE SELECT
  • NP_001243196.1:p.Arg1278Gln
  • NP_001243196.1:p.Arg1278Gln
  • NP_001243197.1:p.Arg984Gln
  • NP_115967.2:p.Arg1278Gln
  • NP_115967.2:p.Arg1278Gln
  • LRG_410t1:c.3833G>A
  • LRG_410:g.109209G>A
  • LRG_410p1:p.Arg1278Gln
  • NC_000010.10:g.69970082G>A
  • NM_001256267.1:c.3833G>A
  • NM_032578.2:c.3833G>A
  • NM_032578.3:c.3833G>A
  • NR_045662.4:n.3370G>A
  • NR_045663.4:n.3907G>A
Protein change:
R1278Q
Links:
dbSNP: rs142877365
NCBI 1000 Genomes Browser:
rs142877365
Molecular consequence:
  • NM_001256267.2:c.3833G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256268.2:c.2951G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032578.4:c.3833G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045662.4:n.3370G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_045663.4:n.3907G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000318925Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 18, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program.

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Ambry Genetics, SCV000318925.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 30, 2024