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NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 5, 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:
RCV004018591.1

Allele description [Variation Report for NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter)]

NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter)

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.812G>A (p.Trp271Ter)
HGVS:
  • NC_000010.11:g.86917270G>A
  • NG_009362.1:g.165632G>A
  • NM_004329.2:c.812G>A
  • NM_004329.3:c.812G>AMANE SELECT
  • NP_004320.2:p.Trp271Ter
  • LRG_298t1:c.812G>A
  • LRG_298:g.165632G>A
  • NC_000010.10:g.88677027G>A
Protein change:
W271*; TRP271TER
Links:
OMIM: 601299.0003; dbSNP: rs199476085
NCBI 1000 Genomes Browser:
rs199476085
Molecular consequence:
  • NM_004329.3:c.812G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005022064Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 5, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Details of each submission

From Ambry Genetics, SCV005022064.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.W271* variant (also known as c.812G>A), located in coding exon 7 of the BMPR1A gene, results from a G to A substitution at nucleotide position 812. This changes the amino acid from a tryptophan to a stop codon within coding exon 7. This alteration has been reported in an individual with a personal and family history of juvenile polyposis syndrome (JPS) (Howe JR et al. Nat Genet, 2001 Jun;28:184-7). 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024