NM_032578.4(MYPN):c.843A>G (p.Pro281=) 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:: RCV000024519.7

Allele description [Variation Report for NM_032578.4(MYPN):c.843A>G (p.Pro281=)]

NM_032578.4(MYPN):c.843A>G (p.Pro281=)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_032578.4(MYPN):c.843A>G (p.Pro281=)

Other names:

p.P281P:CCA>CCG

HGVS:

NC_000010.11:g.68122281A>G
NG_032118.1:g.21165A>G
NM_001256267.2:c.843A>G
NM_001256268.2:c.-280A>G
NM_032578.4:c.843A>GMANE SELECT
NP_001243196.1:p.Pro281=
NP_001243196.1:p.Pro281=
NP_115967.2:p.Pro281=
NP_115967.2:p.Pro281=
LRG_410t1:c.843A>G
LRG_410:g.21165A>G
LRG_410p1:p.Pro281=
NC_000010.10:g.69882038A>G
NM_001256267.1:c.843A>G
NM_001256268.1:c.-280A>G
NM_032578.2:c.843A>G
NM_032578.3:c.843A>G
NR_045663.4:n.1080A>G
p.(=)

Links:

Leiden Muscular Dystrophy (MYPN): MYPN_00038; dbSNP: rs74143022

NCBI 1000 Genomes Browser:

rs74143022

Molecular consequence:

NM_001256268.2:c.-280A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NR_045663.4:n.1080A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001256267.2:c.843A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_032578.4:c.843A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

probably no functional consequence

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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dad30h11.x1 Wellcome CRC pCS107 tropicalis St10-12 Xenopus tropicalis cDNA clone...
dad30h11.x1 Wellcome CRC pCS107 tropicalis St10-12 Xenopus tropicalis cDNA clone IMAGE:4441220 3', mRNA sequence
gi|13483303|gnl|dbEST|8223859|gb|BG 6.1|

Nucleotide
JGI_CABK10737.rev NIH_XGC_tropSpl1 Xenopus tropicalis cDNA clone IMAGE:7885752 3...
JGI_CABK10737.rev NIH_XGC_tropSpl1 Xenopus tropicalis cDNA clone IMAGE:7885752 3', mRNA sequence
gi|73844552|gnl|dbEST|31094980|gb|D 72.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045823	Leiden Muscular Dystrophy (MYPN)	no classification provided	not provided	germline	curation	PubMed (1) [See all records that cite this PMID]
SCV005315845	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045823

Leiden Muscular Dystrophy (MYPN)

no classification provided

not provided

germline

curation

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

SCV005315845

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

not provided

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	curation
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	not provided

Citations

PubMed

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Leiden Muscular Dystrophy (MYPN), SCV000045823.1

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

#	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		not provided	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005315845.1

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

Last Updated: Sep 29, 2024

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