NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 2023
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:: RCV003227944.1

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003925014	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003925014

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 15, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV003925014.1

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

Description

De novo variant with confirmed parentage in multiple patients referred for genetic testing at GeneDx; however, the reported clinical features are not consistent with the features typically observed in individuals with pathogenic variants in this gene and an expanded phenotype requires additional research; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 8, 2024

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