NM_004329.3(BMPR1A):c.430+1G>A AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 27, 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:: RCV002327250.2

Allele description [Variation Report for NM_004329.3(BMPR1A):c.430+1G>A]

NM_004329.3(BMPR1A):c.430+1G>A

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.430+1G>A

HGVS:

NC_000010.11:g.86899891G>A
NG_009362.1:g.148253G>A
NM_001406559.1:c.430+1G>A
NM_001406560.1:c.430+1G>A
NM_001406561.1:c.430+1G>A
NM_001406562.1:c.430+1G>A
NM_001406563.1:c.430+1G>A
NM_001406564.1:c.430+1G>A
NM_001406565.1:c.430+1G>A
NM_001406566.1:c.430+1G>A
NM_001406567.1:c.430+1G>A
NM_001406568.1:c.430+1G>A
NM_001406569.1:c.430+1G>A
NM_001406570.1:c.430+1G>A
NM_001406571.1:c.430+1G>A
NM_001406572.1:c.430+1G>A
NM_001406573.1:c.430+1G>A
NM_001406574.1:c.430+1G>A
NM_001406575.1:c.430+1G>A
NM_001406576.1:c.430+1G>A
NM_001406577.1:c.430+1G>A
NM_001406578.1:c.430+1G>A
NM_001406579.1:c.430+1G>A
NM_001406580.1:c.430+1G>A
NM_001406581.1:c.430+1G>A
NM_001406582.1:c.430+1G>A
NM_001406583.1:c.430+1G>A
NM_001406584.1:c.346+1G>A
NM_001406585.1:c.346+1G>A
NM_001406586.1:c.346+1G>A
NM_001406587.1:c.346+1G>A
NM_001406588.1:c.346+1G>A
NM_001406589.1:c.333+7662G>A
NM_004329.3:c.430+1G>AMANE SELECT
LRG_298t1:c.430+1G>A
LRG_298:g.148253G>A
NC_000010.10:g.88659648G>A
NM_004329.2:c.430+1G>A

Links:

dbSNP: rs1843283551

NCBI 1000 Genomes Browser:

rs1843283551

Molecular consequence:

NM_001406589.1:c.333+7662G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001406559.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406560.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406561.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406562.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406563.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406564.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406565.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406566.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406567.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406568.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406569.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406570.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406571.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406572.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406573.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406574.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406575.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406576.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406577.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406578.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406579.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406580.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406581.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406582.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406583.1:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406584.1:c.346+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406585.1:c.346+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406586.1:c.346+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406587.1:c.346+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406588.1:c.346+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004329.3:c.430+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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

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P-loop containing nucleoside triphosphate hydrolases superfamily protein [Arabidopsis thaliana]
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002626745	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Feb 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002626745

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Feb 27, 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, SCV002626745.2

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

Description

The c.430+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide after coding exon 4 of the BMPR1A gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In silico splice site analysis predicts that this alteration will weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

#	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

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