NM_002473.6(MYH9):c.5808del (p.Gly1938fs) AND MYH9-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 12, 2018
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:: RCV000790348.2

Allele description [Variation Report for NM_002473.6(MYH9):c.5808del (p.Gly1938fs)]

NM_002473.6(MYH9):c.5808del (p.Gly1938fs)

Gene:

MYH9:myosin heavy chain 9 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q12.3

Genomic location:

Preferred name:

NM_002473.6(MYH9):c.5808del (p.Gly1938fs)

HGVS:

NC_000022.11:g.36282744del
NG_011884.2:g.110276del
NM_002473.6:c.5808delMANE SELECT
NP_002464.1:p.Gly1938fs
LRG_567:g.110276del
NC_000022.10:g.36678790del
NM_002473.4:c.5808delG

Protein change:

G1938fs

Links:

dbSNP: rs1603482650

NCBI 1000 Genomes Browser:

rs1603482650

Molecular consequence:

NM_002473.6:c.5808del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: MYH9-related disorder
Identifiers:: MedGen: C1854520

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000891141	NIHR Bioresource Rare Diseases, University of Cambridge	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 12, 2018)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000891141

NIHR Bioresource Rare Diseases, University of Cambridge

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 12, 2018)

unknown

research

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	unknown	yes	1	not provided	not provided	1	not provided	research

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 NIHR Bioresource Rare Diseases, University of Cambridge, SCV000891141.1

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

Description

PM2, #PM4, PM1, PP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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