NM_004329.3(BMPR1A):c.231-5_252dup AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 22, 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:: RCV003176817.2

Allele description [Variation Report for NM_004329.3(BMPR1A):c.231-5_252dup]

NM_004329.3(BMPR1A):c.231-5_252dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

10q23.2

Genomic location:

Preferred name:

NM_004329.3(BMPR1A):c.231-5_252dup

HGVS:

NC_000010.11:g.86892122_86892148dup
NG_009362.1:g.140484_140510dup
NM_001406559.1:c.231-5_252dup
NM_001406560.1:c.231-5_252dup
NM_001406561.1:c.231-5_252dup
NM_001406562.1:c.231-5_252dup
NM_001406563.1:c.231-5_252dup
NM_001406564.1:c.231-5_252dup
NM_001406565.1:c.231-5_252dup
NM_001406566.1:c.231-5_252dup
NM_001406567.1:c.231-5_252dup
NM_001406568.1:c.231-5_252dup
NM_001406569.1:c.231-5_252dup
NM_001406570.1:c.231-5_252dup
NM_001406571.1:c.231-5_252dup
NM_001406572.1:c.231-5_252dup
NM_001406573.1:c.231-5_252dup
NM_001406574.1:c.231-5_252dup
NM_001406575.1:c.231-5_252dup
NM_001406576.1:c.231-5_252dup
NM_001406577.1:c.231-5_252dup
NM_001406578.1:c.231-5_252dup
NM_001406579.1:c.231-5_252dup
NM_001406580.1:c.231-5_252dup
NM_001406581.1:c.231-5_252dup
NM_001406582.1:c.231-5_252dup
NM_001406583.1:c.231-5_252dup
NM_001406584.1:c.147-5_168dup
NM_001406585.1:c.147-5_168dup
NM_001406586.1:c.147-5_168dup
NM_001406587.1:c.147-5_168dup
NM_001406588.1:c.147-5_168dup
NM_001406589.1:c.231-5_252dup
NM_004329.3:c.231-5_252dupMANE SELECT
LRG_298t1:c.231-5_252dup
LRG_298:g.140484_140510dup
NC_000010.10:g.88651879_88651905dup
NM_004329.2:c.231-5_252dupTTTAGAACTAATGGACATTGCTTTGCC

Molecular consequence:

NM_001406559.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406560.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406561.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406562.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406563.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406564.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406565.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406566.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406567.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406568.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406569.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406570.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406571.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406572.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406573.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406574.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406575.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406576.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406577.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406578.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406579.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406580.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406581.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406582.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406583.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406584.1:c.147-5_168dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406585.1:c.147-5_168dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406586.1:c.147-5_168dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406587.1:c.147-5_168dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406588.1:c.147-5_168dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406589.1:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_004329.3:c.231-5_252dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

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AGENCOURT_10333263 NIH_MGC_40 Homo sapiens cDNA clone IMAGE:6576142 5', mRNA seq...
AGENCOURT_10333263 NIH_MGC_40 Homo sapiens cDNA clone IMAGE:6576142 5', mRNA sequence
gi|22854426|gnl|dbEST|13863951|gb|B 43.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003860356	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 22, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003860356

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 22, 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, SCV003860356.2

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

Description

The c.231-5_252dup27 variant results from a duplication of 27 nucleotides (TTTAGAACTAATGGACATTGCTTTGCC) between positions c.231-5 and c.252 and involves the canonical splice acceptor site before coding exon 3 of the BMPR1A gene. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). The canonical splice acceptor site is highly conserved in available vertebrate species. 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

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