NM_032578.4(MYPN):c.3107T>C (p.Val1036Ala) AND Dilated cardiomyopathy 1KK

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 17, 2017
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:: RCV000655047.6

Allele description

NM_032578.4(MYPN):c.3107T>C (p.Val1036Ala)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_032578.4(MYPN):c.3107T>C (p.Val1036Ala)

HGVS:

NC_000010.11:g.68195481T>C
NG_032118.1:g.94365T>C
NM_001256267.2:c.3107T>C
NM_001256268.2:c.2225T>C
NM_032578.4:c.3107T>CMANE SELECT
NP_001243196.1:p.Val1036Ala
NP_001243197.1:p.Val742Ala
NP_115967.2:p.Val1036Ala
NP_115967.2:p.Val1036Ala
LRG_410t1:c.3107T>C
LRG_410:g.94365T>C
LRG_410p1:p.Val1036Ala
NC_000010.10:g.69955238T>C
NM_032578.3:c.3107T>C
NR_045662.4:n.2644T>C
NR_045663.4:n.3181T>C

Protein change:

V1036A

Links:

dbSNP: rs1554850184

NCBI 1000 Genomes Browser:

rs1554850184

Molecular consequence:

NM_001256267.2:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256268.2:c.2225T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_032578.4:c.3107T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_045662.4:n.2644T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045663.4:n.3181T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dilated cardiomyopathy 1KK (CMD1KK)
Identifiers:: MONDO: MONDO:0014100; MedGen: C3714995; Orphanet: 154; Orphanet: 75249; OMIM: 615248

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000776969	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 17, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000776969

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 17, 2017)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000776969.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYPN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 1036 of the MYPN protein (p.Val1036Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.

#	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: Mar 5, 2024

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