NM_001204.7(BMPR2):c.2819C>A (p.Ser940Tyr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 24, 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:: RCV002441776.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.2819C>A (p.Ser940Tyr)]

NM_001204.7(BMPR2):c.2819C>A (p.Ser940Tyr)

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.2819C>A (p.Ser940Tyr)

HGVS:

NC_000002.12:g.202556484C>A
NG_009363.1:g.185158C>A
NM_001204.7:c.2819C>AMANE SELECT
NP_001195.2:p.Ser940Tyr
NP_001195.2:p.Ser940Tyr
LRG_712t1:c.2819C>A
LRG_712:g.185158C>A
LRG_712p1:p.Ser940Tyr
NC_000002.11:g.203421207C>A
NM_001204.6:c.2819C>A

Protein change:

S940Y

Molecular consequence:

NM_001204.7:c.2819C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

tyrosine-protein kinase Fer isoform X10 [Homo sapiens]
tyrosine-protein kinase Fer isoform X10 [Homo sapiens]
gi|767935616|ref|XP_011541578.1|

Protein
Mus musculus cDNA, clone:Y1G0124D23, strand:plus, reference:ENSEMBL:Mouse-Transc...
Mus musculus cDNA, clone:Y1G0124D23, strand:plus, reference:ENSEMBL:Mouse-Transcript-ENST:ENSMUST00000003527, based on BLAT search
gi|56021347|dbj|AK197170.1|

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
SCV002749494	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 24, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002749494

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 24, 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, SCV002749494.2

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

Description

The p.S940Y variant (also known as c.2819C>A), located in coding exon 12 of the BMPR2 gene, results from a C to A substitution at nucleotide position 2819. The serine at codon 940 is replaced by tyrosine, 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