NM_004329.3(BMPR1A):c.636_641del (p.212QS[1]) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 16, 2023
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:: RCV004516724.1

Allele description [Variation Report for NM_004329.3(BMPR1A):c.636_641del (p.212QS[1])]

NM_004329.3(BMPR1A):c.636_641del (p.212QS[1])

Gene:

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

Variant type:

Deletion

Cytogenetic location:

10q23.2

Genomic location:

Preferred name:

NM_004329.3(BMPR1A):c.636_641del (p.212QS[1])

HGVS:

NC_000010.11:g.86912345_86912350del
NG_009362.1:g.160707_160712del
NM_001406559.1:c.711_716del
NM_001406560.1:c.684_689del
NM_001406561.1:c.636_641del
NM_001406562.1:c.636_641del
NM_001406563.1:c.636_641del
NM_001406564.1:c.636_641del
NM_001406565.1:c.636_641del
NM_001406566.1:c.636_641del
NM_001406567.1:c.636_641del
NM_001406568.1:c.636_641del
NM_001406569.1:c.636_641del
NM_001406570.1:c.636_641del
NM_001406571.1:c.636_641del
NM_001406572.1:c.636_641del
NM_001406573.1:c.636_641del
NM_001406574.1:c.636_641del
NM_001406575.1:c.636_641del
NM_001406576.1:c.636_641del
NM_001406577.1:c.636_641del
NM_001406578.1:c.636_641del
NM_001406579.1:c.636_641del
NM_001406580.1:c.636_641del
NM_001406581.1:c.636_641del
NM_001406582.1:c.636_641del
NM_001406583.1:c.636_641del
NM_001406584.1:c.552_557del
NM_001406585.1:c.552_557del
NM_001406586.1:c.552_557del
NM_001406587.1:c.552_557del
NM_001406588.1:c.552_557del
NM_001406589.1:c.334-4789_334-4784del
NM_004329.3:c.636_641delMANE SELECT
NP_001393488.1:p.237QS[1]
NP_001393489.1:p.228QS[1]
NP_001393490.1:p.212QS[1]
NP_001393491.1:p.212QS[1]
NP_001393492.1:p.212QS[1]
NP_001393493.1:p.212QS[1]
NP_001393494.1:p.212QS[1]
NP_001393495.1:p.212QS[1]
NP_001393496.1:p.212QS[1]
NP_001393497.1:p.212QS[1]
NP_001393498.1:p.212QS[1]
NP_001393499.1:p.212QS[1]
NP_001393500.1:p.212QS[1]
NP_001393501.1:p.212QS[1]
NP_001393502.1:p.212QS[1]
NP_001393503.1:p.212QS[1]
NP_001393504.1:p.212QS[1]
NP_001393505.1:p.212QS[1]
NP_001393506.1:p.212QS[1]
NP_001393507.1:p.212QS[1]
NP_001393508.1:p.212QS[1]
NP_001393509.1:p.212QS[1]
NP_001393510.1:p.212QS[1]
NP_001393511.1:p.212QS[1]
NP_001393512.1:p.212QS[1]
NP_001393513.1:p.184QS[1]
NP_001393514.1:p.184QS[1]
NP_001393515.1:p.184QS[1]
NP_001393516.1:p.184QS[1]
NP_001393517.1:p.184QS[1]
NP_004320.2:p.212QS[1]
NP_004320.2:p.Gln214_Ser215del
LRG_298t1:c.636_641del
LRG_298:g.160707_160712del
LRG_298p1:p.Gln214_Ser215del
NC_000010.10:g.88672102_88672107del
NM_004329.2:c.636_641delGTCACA
NR_176211.1:n.1204_1209del
NR_176212.1:n.1204_1209del
NR_176213.1:n.1204_1209del

Molecular consequence:

NM_001406559.1:c.711_716del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406560.1:c.684_689del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406561.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406562.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406563.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406564.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406565.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406566.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406567.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406568.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406569.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406570.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406571.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406572.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406573.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406574.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406575.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406576.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406577.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406578.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406579.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406580.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406581.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406582.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406583.1:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406584.1:c.552_557del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406585.1:c.552_557del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406586.1:c.552_557del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406587.1:c.552_557del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406588.1:c.552_557del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004329.3:c.636_641del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406589.1:c.334-4789_334-4784del - intron variant - [Sequence Ontology: SO:0001627]
NR_176211.1:n.1204_1209del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176212.1:n.1204_1209del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176213.1:n.1204_1209del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005021999	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 16, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005021999

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 16, 2023)

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, SCV005021999.1

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

Description

The c.636_641delGTCACA variant (also known as p.Q214_S215del) is located in coding exon 6 of the BMPR1A gene. This variant results from an in-frame GTCACA deletion at nucleotide positions 636 to 641. This results in the in-frame deletion of a glutamine and a serine at codons 214 to 215. This amino acid region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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 7, 2024

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