NM_032578.4(MYPN):c.3127del (p.Ser1043fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 20, 2022
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:: RCV002223253.1

Allele description [Variation Report for NM_032578.4(MYPN):c.3127del (p.Ser1043fs)]

NM_032578.4(MYPN):c.3127del (p.Ser1043fs)

Gene:

MYPN:myopalladin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q21.3

Genomic location:

Preferred name:

NM_032578.4(MYPN):c.3127del (p.Ser1043fs)

HGVS:

NC_000010.11:g.68195501del
NG_032118.1:g.94385del
NM_001256267.2:c.3127del
NM_001256268.2:c.2245del
NM_032578.4:c.3127delMANE SELECT
NP_001243196.1:p.Ser1043fs
NP_001243197.1:p.Ser749fs
NP_115967.2:p.Ser1043fs
LRG_410:g.94385del
NC_000010.10:g.69955258del
NM_032578.3:c.3127delA
NR_045662.4:n.2664del
NR_045663.4:n.3201del

Protein change:

S1043fs

Links:

dbSNP: rs1589608098

NCBI 1000 Genomes Browser:

rs1589608098

Molecular consequence:

NM_001256267.2:c.3127del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256268.2:c.2245del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032578.4:c.3127del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_045662.4:n.2664del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045663.4:n.3201del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002501167	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 20, 2022)	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

SCV002501167

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 20, 2022)

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	yes	1	not provided	not provided	not provided	not provided	clinical 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 AiLife Diagnostics, AiLife Diagnostics, SCV002501167.1

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

Last Updated: Sep 29, 2024

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