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NM_004329.3(BMPR1A):c.812G>A (p.Trp271Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 5, 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:
RCV001810838.13

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002049441ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Pathogenic
(Jan 5, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002049441.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BMPR1A c.812G>A; p.Trp271Ter variant (rs199476085) is reported in the literature in several individuals affected with juvenile polyposis syndrome (Calva-Cerqueira 2009, Howe 2001). The variant segregated with disease in at least five affected individuals in one kindred (Howe 2001). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Calva-Cerqueira D et al. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 2009 Jan;75(1):79-85. Howe JR et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet. 2001 Jun;28(2):184-7.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024