NM_004329.3(BMPR1A):c.26G>C (p.Arg9Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 16, 2017
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:: RCV000523833.1

Allele description [Variation Report for NM_004329.3(BMPR1A):c.26G>C (p.Arg9Thr)]

NM_004329.3(BMPR1A):c.26G>C (p.Arg9Thr)

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.26G>C (p.Arg9Thr)

HGVS:

NC_000010.11:g.86876044G>C
NG_009362.1:g.124406G>C
NM_004329.3:c.26G>CMANE SELECT
NP_004320.2:p.Arg9Thr
NP_004320.2:p.Arg9Thr
LRG_298t1:c.26G>C
LRG_298:g.124406G>C
LRG_298p1:p.Arg9Thr
NC_000010.10:g.88635801G>C
NM_004329.2:c.26G>C

Protein change:

R9T

Links:

dbSNP: rs766269417

NCBI 1000 Genomes Browser:

rs766269417

Molecular consequence:

NM_004329.3:c.26G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

H Wu (118)
ClinVar

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
SCV000618334	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 16, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000618334

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 16, 2017)

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, SCV000618334.1

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

Description

This variant is denoted BMPR1A c.26G>C at the cDNA level, p.Arg9Thr (R9T) at the protein level, and results in the change of an Arginine to a Threonine (AGA>ACA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BMPR1A Arg9Thr was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Arginine and Threonine differ in some properties, this is considered a semi-conservative amino acid substitution. BMPR1A Arg9Thr occurs at a position that is not conserved and is located within the signal peptide domain (Howe 2004). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BMPR1A Arg9Thr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine