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NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile) AND Juvenile polyposis syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 25, 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:
RCV003335228.2

Allele description [Variation Report for NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)]

NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)

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.3G>C (p.Met1Ile)
HGVS:
  • NC_000010.11:g.86876021G>C
  • NG_009362.1:g.124383G>C
  • NM_004329.3:c.3G>CMANE SELECT
  • NP_004320.2:p.Met1Ile
  • NP_004320.2:p.Met1Ile
  • LRG_298t1:c.3G>C
  • LRG_298:g.124383G>C
  • LRG_298p1:p.Met1Ile
  • NC_000010.10:g.88635778G>C
  • NM_004329.2:c.3G>C
Protein change:
M1I
Links:
dbSNP: rs869312758
NCBI 1000 Genomes Browser:
rs869312758
Molecular consequence:
  • NM_004329.3:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_004329.3:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Juvenile polyposis syndrome (JPS)
Synonyms:
Polyposis juvenile intestinal; Polyposis familial of entire gastrointestinal tract
Identifiers:
MONDO: MONDO:0017380; MedGen: C0345893; Orphanet: 2929; OMIM: 174900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004043247Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(May 25, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004043247.2

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

Description

This variant is considered likely pathogenic. This variant is located within the gene translation start codon (p.Met1?) and is predicted to result in abnormal protein translation.

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

Last Updated: Dec 24, 2023