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NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 13, 2021
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:
RCV002343462.8

Allele description

NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter)

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.566dup (p.Tyr189Ter)
HGVS:
  • NC_000010.11:g.86912275dup
  • NG_009362.1:g.160637dup
  • NM_004329.3:c.566dupMANE SELECT
  • NP_004320.2:p.Tyr189Ter
  • NP_004320.2:p.Tyr189Ter
  • LRG_298t1:c.566dup
  • LRG_298:g.160637dup
  • LRG_298p1:p.Tyr189Ter
  • NC_000010.10:g.88672031_88672032insA
  • NC_000010.10:g.88672032dup
  • NM_004329.2:c.566dup
  • NM_004329.2:c.566dupA
Protein change:
Y189*
Links:
dbSNP: rs1564721929
NCBI 1000 Genomes Browser:
rs1564721929
Molecular consequence:
  • NM_004329.3:c.566dup - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002652404Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Oct 13, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002652404.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.566dupA pathogenic mutation, located in coding exon 6 of the BMPR1A gene, results from a duplication of A at nucleotide position 566, causing a translational frameshift with a predicted alternate stop codon (p.Y189*). This alteration has been observed in at least one individual with a personal and/or family history that is consistent with juvenile polyposis syndrome (JPS) (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024