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NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) AND MYPN-related myopathy

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 5, 2021
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:
RCV001778668.2

Allele description [Variation Report for NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu)]

NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu)

Gene:
MYPN:myopalladin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu)
Other names:
p.F628L:TTC>TTG
HGVS:
  • NC_000010.11:g.68166577C>G
  • NG_032118.1:g.65461C>G
  • NM_001256267.2:c.1884C>G
  • NM_001256268.2:c.1002C>G
  • NM_032578.4:c.1884C>GMANE SELECT
  • NP_001243196.1:p.Phe628Leu
  • NP_001243196.1:p.Phe628Leu
  • NP_001243197.1:p.Phe334Leu
  • NP_115967.2:p.Phe628Leu
  • NP_115967.2:p.Phe628Leu
  • LRG_410t1:c.1884C>G
  • LRG_410:g.65461C>G
  • LRG_410p1:p.Phe628Leu
  • NC_000010.10:g.69926334C>G
  • NM_001256267.1:c.1884C>G
  • NM_032578.2:c.1884C>G
  • NM_032578.3:c.1884C>G
  • NM_032578.4:c.1884C>G
  • NR_045662.4:n.1421C>G
  • NR_045663.4:n.2097C>G
  • Q86TC9:p.Phe628Leu
  • p.(Phe628Leu)
Protein change:
F334L
Links:
Leiden Muscular Dystrophy (MYPN): MYPN_00016; UniProtKB: Q86TC9#VAR_049912; dbSNP: rs10823148
NCBI 1000 Genomes Browser:
rs10823148
Molecular consequence:
  • NM_001256267.2:c.1884C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256268.2:c.1002C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032578.4:c.1884C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045662.4:n.1421C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_045663.4:n.2097C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
probably no functional consequence

Condition(s)

Name:
MYPN-related myopathy (CMYO24)
Synonyms:
Nemaline myopathy 11, autosomal recessive
Identifiers:
MONDO: MONDO:0015023; MedGen: C4479186; OMIM: 617336

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002015947Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Genome-Nilou Lab, SCV002015947.1

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

Last Updated: Sep 29, 2024