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NM_032578.4(MYPN):c.1952C>A (p.Pro651Gln) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 12, 2022
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:
RCV002420543.9

Allele description [Variation Report for NM_032578.4(MYPN):c.1952C>A (p.Pro651Gln)]

NM_032578.4(MYPN):c.1952C>A (p.Pro651Gln)

Gene:
MYPN:myopalladin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_032578.4(MYPN):c.1952C>A (p.Pro651Gln)
HGVS:
  • NC_000010.11:g.68166645C>A
  • NG_032118.1:g.65529C>A
  • NM_001256267.2:c.1952C>A
  • NM_001256268.2:c.1070C>A
  • NM_032578.4:c.1952C>AMANE SELECT
  • NP_001243196.1:p.Pro651Gln
  • NP_001243197.1:p.Pro357Gln
  • NP_115967.2:p.Pro651Gln
  • NP_115967.2:p.Pro651Gln
  • LRG_410t1:c.1952C>A
  • LRG_410:g.65529C>A
  • LRG_410p1:p.Pro651Gln
  • NC_000010.10:g.69926402C>A
  • NM_032578.2:c.1952C>A
  • NM_032578.3:c.1952C>A
  • NR_045662.4:n.1489C>A
  • NR_045663.4:n.2165C>A
Protein change:
P357Q
Links:
dbSNP: rs548318517
NCBI 1000 Genomes Browser:
rs548318517
Molecular consequence:
  • NM_001256267.2:c.1952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256268.2:c.1070C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032578.4:c.1952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045662.4:n.1489C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_045663.4:n.2165C>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002718342Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 12, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002718342.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

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 3, 2024