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NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 30, 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:
RCV001025874.3

Allele description [Variation Report for NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter)]

NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter)

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.697C>T (p.Gln233Ter)
HGVS:
  • NC_000010.11:g.86917155C>T
  • NG_009362.1:g.165517C>T
  • NM_004329.3:c.697C>TMANE SELECT
  • NP_004320.2:p.Gln233Ter
  • NP_004320.2:p.Gln233Ter
  • LRG_298t1:c.697C>T
  • LRG_298:g.165517C>T
  • LRG_298p1:p.Gln233Ter
  • NC_000010.10:g.88676912C>T
  • NM_004329.2:c.697C>T
Protein change:
Q233*
Links:
dbSNP: rs1554890743
NCBI 1000 Genomes Browser:
rs1554890743
Molecular consequence:
  • NM_004329.3:c.697C>T - 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
SCV001188146Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 30, 2018) 		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

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, SCV001188146.4

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

Description

The p.Q233* variant (also known as c.697C>T), located in coding exon 7 of the BMPR1A gene, results from a C to T substitution at nucleotide position 697. This changes the amino acid from a glutamine to a stop codon within coding exon 7. In a study of 603 patients with at least five gastrointestinal polyps, including at least one hamartomatous or hyperplastic/serrated polyp, this variant was reported in a 14 year-old white male with juvenile polyps (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.

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

Last Updated: Sep 29, 2024