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NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) AND not provided

Germline classification:
Benign (2 submissions)
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:
RCV000024493.7

Allele description [Variation Report for NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)]

NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)

Gene:
MYPN:myopalladin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)
Other names:
p.P1135T:CCA>ACA
HGVS:
  • NC_000010.11:g.68199485C>A
  • NG_032118.1:g.98369C>A
  • NM_001256267.2:c.3403C>A
  • NM_001256268.2:c.2521C>A
  • NM_032578.4:c.3403C>AMANE SELECT
  • NP_001243196.1:p.Pro1135Thr
  • NP_001243196.1:p.Pro1135Thr
  • NP_001243197.1:p.Pro841Thr
  • NP_001243197.1:p.Pro841Thr
  • NP_115967.2:p.Pro1135Thr
  • NP_115967.2:p.Pro1135Thr
  • LRG_410t1:c.3403C>A
  • LRG_410:g.98369C>A
  • LRG_410p1:p.Pro1135Thr
  • NC_000010.10:g.69959242C>A
  • NM_001256267.1:c.3403C>A
  • NM_001256268.1:c.2521C>A
  • NM_032578.2:c.3403C>A
  • NM_032578.3:c.3403C>A
  • NM_032578.4:c.3403C>A
  • NR_045662.4:n.2940C>A
  • NR_045663.4:n.3477C>A
  • Q86TC9:p.Pro1135Thr
  • p.(=)
  • p.(Pro1135Thr)
Protein change:
P1135T
Links:
Leiden Muscular Dystrophy (MYPN): MYPN_00012; UniProtKB: Q86TC9#VAR_049913; dbSNP: rs7079481
NCBI 1000 Genomes Browser:
rs7079481
Molecular consequence:
  • NM_001256267.2:c.3403C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256268.2:c.2521C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032578.4:c.3403C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045662.4:n.2940C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_045663.4:n.3477C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
probably no functional consequence

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000045797Leiden Muscular Dystrophy (MYPN)
no classification provided
not providedgermlinecuration

PubMed (2)
[See all records that cite these PMIDs]

SCV005318821Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlinenot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providednot provided
not providedgermlinenot providednot providednot providednot providednot providednot providedcuration

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 (3)

Details of each submission

From Leiden Muscular Dystrophy (MYPN), SCV000045797.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005318821.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024