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NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) AND MYH9-related disorder

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 18, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000790358.4

Allele description [Variation Report for NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)]

NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)

Gene:
MYH9:myosin heavy chain 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.3
Genomic location:
Preferred name:
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
HGVS:
  • NC_000022.11:g.36292060C>T
  • NG_011884.2:g.100959G>A
  • NM_002473.6:c.4270G>AMANE SELECT
  • NP_002464.1:p.Asp1424Asn
  • NP_002464.1:p.Asp1424Asn
  • LRG_567t1:c.4270G>A
  • LRG_567:g.100959G>A
  • LRG_567p1:p.Asp1424Asn
  • NC_000022.10:g.36688106C>T
  • NM_002473.4:c.4270G>A
  • NM_002473.5:c.4270G>A
  • P35579:p.Asp1424Asn
Protein change:
D1424N; ASP1424ASN
Links:
UniProtKB: P35579#VAR_018316; OMIM: 160775.0010; dbSNP: rs80338831
NCBI 1000 Genomes Browser:
rs80338831
Molecular consequence:
  • NM_002473.6:c.4270G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MYH9-related disorder
Identifiers:
MedGen: C1854520

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000891151NIHR Bioresource Rare Diseases, University of Cambridge
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 12, 2018) 		unknownresearch

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

SCV004107706PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 18, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
Hispanicunknownyes1not providednot provided1not providedresearch
Middle-Easternunknownyes1not providednot provided1not providedresearch
South-Asianunknownyes1not providednot provided1not providedresearch

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, SCV000891151.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2Hispanic1not providednot providedresearch PubMed (1)
3Middle-Eastern1not providednot providedresearch PubMed (1)
4South-Asian1not providednot providedresearch PubMed (1)

Description

PS4, PP1_strong, PM2, PP4, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided
2unknownyes1not providednot provided1not providednot providednot provided
3unknownyes1not providednot provided1not providednot providednot provided
4unknownyes1not providednot provided1not providednot providednot provided

From PreventionGenetics, part of Exact Sciences, SCV004107706.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The MYH9 c.4270G>A variant is predicted to result in the amino acid substitution p.Asp1424Asn. This variant has been reported to be causative for MYH9-related disorders in several unrelated families (see for example Kunishima et al. 2001. PubMed ID: 11159552; Seri et al. 2003. PubMed ID: 12792306; Dong et al. 2005. PubMed ID: 16098078; Verver et al. 2016. PubMed ID: 26226608). The c.4270G>A substitution is one of the most common pathogenic variants found in the MYH9 gene, and it is thought to cause disease due to haploinsufficiency from unstable MYH9 protein (Deutsch et al. 2003. PubMed ID: 12649151). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024