NM_004329.3(BMPR1A):c.850C>G (p.Arg284Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 29, 2022
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:: RCV002447739.2

Allele description [Variation Report for NM_004329.3(BMPR1A):c.850C>G (p.Arg284Gly)]

NM_004329.3(BMPR1A):c.850C>G (p.Arg284Gly)

Gene:

BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

Preferred name:

NM_004329.3(BMPR1A):c.850C>G (p.Arg284Gly)

HGVS:

NC_000010.11:g.86917308C>G
NG_009362.1:g.165670C>G
NM_001406559.1:c.925C>G
NM_001406560.1:c.898C>G
NM_001406561.1:c.850C>G
NM_001406562.1:c.850C>G
NM_001406563.1:c.850C>G
NM_001406564.1:c.850C>G
NM_001406565.1:c.850C>G
NM_001406566.1:c.850C>G
NM_001406567.1:c.850C>G
NM_001406568.1:c.850C>G
NM_001406569.1:c.850C>G
NM_001406570.1:c.850C>G
NM_001406571.1:c.850C>G
NM_001406572.1:c.850C>G
NM_001406573.1:c.850C>G
NM_001406574.1:c.850C>G
NM_001406575.1:c.850C>G
NM_001406576.1:c.850C>G
NM_001406577.1:c.850C>G
NM_001406578.1:c.850C>G
NM_001406579.1:c.850C>G
NM_001406580.1:c.850C>G
NM_001406581.1:c.850C>G
NM_001406582.1:c.850C>G
NM_001406583.1:c.844C>G
NM_001406584.1:c.766C>G
NM_001406585.1:c.766C>G
NM_001406586.1:c.766C>G
NM_001406587.1:c.766C>G
NM_001406588.1:c.766C>G
NM_001406589.1:c.508C>G
NM_004329.3:c.850C>GMANE SELECT
NP_001393488.1:p.Arg309Gly
NP_001393489.1:p.Arg300Gly
NP_001393490.1:p.Arg284Gly
NP_001393491.1:p.Arg284Gly
NP_001393492.1:p.Arg284Gly
NP_001393493.1:p.Arg284Gly
NP_001393494.1:p.Arg284Gly
NP_001393495.1:p.Arg284Gly
NP_001393496.1:p.Arg284Gly
NP_001393497.1:p.Arg284Gly
NP_001393498.1:p.Arg284Gly
NP_001393499.1:p.Arg284Gly
NP_001393500.1:p.Arg284Gly
NP_001393501.1:p.Arg284Gly
NP_001393502.1:p.Arg284Gly
NP_001393503.1:p.Arg284Gly
NP_001393504.1:p.Arg284Gly
NP_001393505.1:p.Arg284Gly
NP_001393506.1:p.Arg284Gly
NP_001393507.1:p.Arg284Gly
NP_001393508.1:p.Arg284Gly
NP_001393509.1:p.Arg284Gly
NP_001393510.1:p.Arg284Gly
NP_001393511.1:p.Arg284Gly
NP_001393512.1:p.Arg282Gly
NP_001393513.1:p.Arg256Gly
NP_001393514.1:p.Arg256Gly
NP_001393515.1:p.Arg256Gly
NP_001393516.1:p.Arg256Gly
NP_001393517.1:p.Arg256Gly
NP_001393518.1:p.Arg170Gly
NP_004320.2:p.Arg284Gly
NP_004320.2:p.Arg284Gly
LRG_298t1:c.850C>G
LRG_298:g.165670C>G
LRG_298p1:p.Arg284Gly
NC_000010.10:g.88677065C>G
NM_004329.2:c.850C>G
NR_176211.1:n.1418C>G
NR_176212.1:n.1418C>G
NR_176213.1:n.1418C>G

Protein change:

R170G

Molecular consequence:

NM_001406559.1:c.925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406560.1:c.898C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406561.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406562.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406563.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406564.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406565.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406566.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406567.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406568.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406569.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406570.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406571.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406572.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406573.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406574.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406575.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406576.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406577.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406578.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406579.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406580.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406581.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406582.1:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406583.1:c.844C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406584.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406585.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406586.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406587.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406588.1:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406589.1:c.508C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004329.3:c.850C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

rho GTPase-activating protein 8 isoform 2 [Homo sapiens]
rho GTPase-activating protein 8 isoform 2 [Homo sapiens]
gi|66346660|ref|NP_851852.2|

Protein
Mus musculus tripartite motif protein 37, mRNA (cDNA clone IMAGE:6816289)
Mus musculus tripartite motif protein 37, mRNA (cDNA clone IMAGE:6816289)
gi|38494200|gb|BC061474.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002679018	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002679018

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 29, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002679018.2

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

Description

The p.R284G variant (also known as c.850C>G), located in coding exon 7 of the BMPR1A gene, results from a C to G substitution at nucleotide position 850. The arginine at codon 284 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine