NM_032578.4(MYPN):c.1875C>T (p.Pro625=) AND not specified

Germline classification:: Benign (4 submissions)
Last evaluated:: Apr 9, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000181000.8

Allele description [Variation Report for NM_032578.4(MYPN):c.1875C>T (p.Pro625=)]

NM_032578.4(MYPN):c.1875C>T (p.Pro625=)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_032578.4(MYPN):c.1875C>T (p.Pro625=)

Other names:

p.P625P:CCC>CCT

HGVS:

NC_000010.11:g.68166568C>T
NG_032118.1:g.65452C>T
NM_001256267.2:c.1875C>T
NM_001256268.2:c.993C>T
NM_032578.4:c.1875C>TMANE SELECT
NP_001243196.1:p.Pro625=
NP_001243196.1:p.Pro625=
NP_001243197.1:p.Pro331=
NP_115967.2:p.Pro625=
NP_115967.2:p.Pro625=
LRG_410t1:c.1875C>T
LRG_410:g.65452C>T
LRG_410p1:p.Pro625=
NC_000010.10:g.69926325C>T
NM_001256267.1:c.1875C>T
NM_032578.2:c.1875C>T
NM_032578.3:c.1875C>T
NR_045662.4:n.1412C>T
NR_045663.4:n.2088C>T
p.(=)

Links:

Leiden Muscular Dystrophy (MYPN): MYPN_00008; dbSNP: rs2673793

NCBI 1000 Genomes Browser:

rs2673793

Molecular consequence:

NR_045662.4:n.1412C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045663.4:n.2088C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001256267.2:c.1875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001256268.2:c.993C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_032578.4:c.1875C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

probably no functional consequence

Observations:

166

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000170621	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Nov 22, 2013)	germline	clinical testing	Citation Link,
SCV000269390	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Oct 29, 2014)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18006477, 22286171, 24033266
SCV000740638	Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (May 13, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003928612	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Apr 9, 2023)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	167	166	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.

Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, Bors V, Komajda M, Villard E.

Cardiovasc Res. 2008 Jan;77(1):118-25. Epub 2007 Sep 19.

PubMed [citation]

PMID:: 18006477

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.

Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, et al.

Hum Mol Genet. 2012 May 1;21(9):2039-53. doi: 10.1093/hmg/dds022. Epub 2012 Jan 27.

PubMed [citation]

PMID:: 22286171
PMCID:: PMC3315208

See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV000170621.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000269390.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	167	not provided	not provided	clinical testing	PubMed (3)

Description

p.Pro625Pro in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 19% (1605/8600) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs2673793).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		167	not provided	166	not provided

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV000740638.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003928612.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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