NM_001256012.3(MYH10):c.4884+1G>A AND See cases

Germline classification:: Pathogenic (1 submission)
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:: RCV004552029.1

Allele description [Variation Report for NM_001256012.3(MYH10):c.4884+1G>A]

NM_001256012.3(MYH10):c.4884+1G>A

Gene:

MYH10:myosin heavy chain 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_001256012.3(MYH10):c.4884+1G>A

HGVS:

NC_000017.11:g.8490339C>T
NG_042305.2:g.145423G>A
NM_001256012.3:c.4884+1G>AMANE SELECT
NM_001256095.2:c.4818+1G>A
NM_001375266.1:c.4821+1G>A
NM_005964.5:c.4791+1G>A
NC_000017.10:g.8393657C>T
NM_001256012.2:c.4884+1G>A

Links:

dbSNP: rs2151813002

NCBI 1000 Genomes Browser:

rs2151813002

Molecular consequence:

NM_001256012.3:c.4884+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001256095.2:c.4818+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001375266.1:c.4821+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_005964.5:c.4791+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005043360	Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	de novo, not applicable	clinical testing, in vitro	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005043360

Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

de novo, not applicable

clinical testing, in vitro

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	not applicable	yes	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	de novo	yes	2	1	not provided	not provided	yes	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 Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University, SCV005043360.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	yes	clinical testing	PubMed (1)
2	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		2	not provided	1	not provided
2	not applicable	yes	not provided	skin fibroblasts	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

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