NM_002470.4(MYH3):c.2512A>C (p.Lys838Gln) AND Distal arthrogryposis

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 27, 2020
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:: RCV001289472.2

Allele description [Variation Report for NM_002470.4(MYH3):c.2512A>C (p.Lys838Gln)]

NM_002470.4(MYH3):c.2512A>C (p.Lys838Gln)

Gene:

MYH3:myosin heavy chain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_002470.4(MYH3):c.2512A>C (p.Lys838Gln)

HGVS:

NC_000017.11:g.10640166T>G
NG_011537.1:g.22133A>C
NM_002470.4:c.2512A>CMANE SELECT
NP_002461.2:p.Lys838Gln
NC_000017.10:g.10543483T>G

Protein change:

K838Q

Links:

dbSNP: rs2074256645

NCBI 1000 Genomes Browser:

rs2074256645

Molecular consequence:

NM_002470.4:c.2512A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Distal arthrogryposis
Identifiers:: MONDO: MONDO:0019942; MedGen: C0265213; OMIM: PS108120; Human Phenotype Ontology: HP:0005684

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001477306	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Likely pathogenic (Oct 27, 2020)	maternal	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001477306

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Likely pathogenic
(Oct 27, 2020)

maternal

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV001477306.1

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

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

Last Updated: Feb 4, 2024

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