NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys) AND Progressive myositis ossificans

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001290293.1

Allele description [Variation Report for NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys)]

NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys)

Gene:

BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.2

Genomic location:

Preferred name:

NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys)

Other names:

NM_001204.7(BMPR2):c.1126G>A; p.Glu376Lys

HGVS:

NC_000002.12:g.202530952G>A
NG_009363.1:g.159626G>A
NM_001204.7:c.1126G>AMANE SELECT
NP_001195.2:p.Glu376Lys
LRG_712:g.159626G>A
NC_000002.11:g.203395675G>A
NM_001204.6:c.1126G>A

Protein change:

E376K

Links:

dbSNP: rs1085307301

NCBI 1000 Genomes Browser:

rs1085307301

Molecular consequence:

NM_001204.7:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Progressive myositis ossificans (FOP)
Synonyms:: Myositis ossificans progressiva; Progressive ossifying myositis
Identifiers:: MONDO: MONDO:0007606; MedGen: C0016037; Orphanet: 337; OMIM: 135100

Recent activity

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Chain A, Similar to S.pombe -rad4+/cut5+product (A40727)
Chain A, Similar to S.pombe -rad4+/cut5+product (A40727)
gi|159163289|pdb|1WF6|A

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001426377	Laboratory of Genetic Skeletal Anomaly, Seoul National University Children's Hospital	no assertion criteria provided	Pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001426377

Laboratory of Genetic Skeletal Anomaly, Seoul National University Children's Hospital

no assertion criteria provided

Pathogenic

de novo

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Laboratory of Genetic Skeletal Anomaly, Seoul National University Children's Hospital, SCV001426377.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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