NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 31, 2018
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:: RCV002331136.2

Allele description [Variation Report for NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs)]

NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs)

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.44_47del (p.Leu15fs)

HGVS:

NC_000010.11:g.86876062_86876065del
NG_009362.1:g.124424_124427del
NM_004329.3:c.44_47delMANE SELECT
NP_004320.2:p.Leu15fs
NP_004320.2:p.Leu15fs
LRG_298t1:c.44_47del
LRG_298:g.124424_124427del
LRG_298p1:p.Leu15fs
NC_000010.10:g.88635817_88635820del
NC_000010.10:g.88635819_88635822del
NM_004329.2:c.44_47del
NM_004329.2:c.44_47delTGTT

Protein change:

L15fs

Links:

OMIM: 601299.0001; dbSNP: rs1554886816

NCBI 1000 Genomes Browser:

rs1554886816

Molecular consequence:

NM_004329.3:c.44_47del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Clear Turn Off Turn On

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
SCV002629111	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 31, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11381269, 23399955 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002629111

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 31, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

Howe JR, Bair JL, Sayed MG, Anderson ME, Mitros FA, Petersen GM, Velculescu VE, Traverso G, Vogelstein B.

Nat Genet. 2001 Jun;28(2):184-7.

PubMed [citation]

PMID:: 11381269

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

Ngeow J, Heald B, Rybicki LA, Orloff MS, Chen JL, Liu X, Yerian L, Willis J, Lehtonen HJ, Lehtonen R, Mester JL, Moline J, Burke CA, Church J, Aaltonen LA, Eng C.

Gastroenterology. 2013 Jun;144(7):1402-9, 1409.e1-5. doi: 10.1053/j.gastro.2013.02.001. Epub 2013 Feb 8.

PubMed [citation]

PMID:: 23399955
PMCID:: PMC3969031

Details of each submission

From Ambry Genetics, SCV002629111.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.44_47delTGTT pathogenic mutation, located in coding exon 1 of the BMPR1A gene, results from a deletion of 4 nucleotides at nucleotide positions 44 to 47, causing a translational frameshift with a predicted alternate stop codon (p.L15Sfs*20). This alteration segregated with disease in 8 members of a juvenile polyposis family and was not seen in four unaffected family members (Howe JR et al. Nat. Genet., 2001 Jun;28:184-7). It was also seen in two patients with juvenile polyps who also had colon cancer ( (Ngeow J et al. Gastroenterology, 2013 Jun;144:1402-9, 1409.e1-5). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted 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: Sep 29, 2024

ClinVar

Relating variation to medicine