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NM_004329.3(BMPR1A):c.1238del (p.Leu413fs) AND Juvenile polyposis syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2024
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:
RCV004442607.1

Allele description [Variation Report for NM_004329.3(BMPR1A):c.1238del (p.Leu413fs)]

NM_004329.3(BMPR1A):c.1238del (p.Leu413fs)

Gene:
BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_004329.3(BMPR1A):c.1238del (p.Leu413fs)
HGVS:
  • NC_000010.11:g.86921591del
  • NG_009362.1:g.169953del
  • NM_001406559.1:c.1313del
  • NM_001406560.1:c.1286del
  • NM_001406561.1:c.1238del
  • NM_001406562.1:c.1238del
  • NM_001406563.1:c.1238del
  • NM_001406564.1:c.1238del
  • NM_001406565.1:c.1238del
  • NM_001406566.1:c.1238del
  • NM_001406567.1:c.1238del
  • NM_001406568.1:c.1238del
  • NM_001406569.1:c.1238del
  • NM_001406570.1:c.1238del
  • NM_001406571.1:c.1238del
  • NM_001406572.1:c.1238del
  • NM_001406573.1:c.1238del
  • NM_001406574.1:c.1238del
  • NM_001406575.1:c.1238del
  • NM_001406576.1:c.1238del
  • NM_001406577.1:c.1238del
  • NM_001406578.1:c.1238del
  • NM_001406579.1:c.1238del
  • NM_001406580.1:c.1238del
  • NM_001406581.1:c.1238del
  • NM_001406582.1:c.1238del
  • NM_001406583.1:c.1232del
  • NM_001406584.1:c.1154del
  • NM_001406585.1:c.1154del
  • NM_001406586.1:c.1154del
  • NM_001406587.1:c.1154del
  • NM_001406588.1:c.1154del
  • NM_001406589.1:c.896del
  • NM_004329.3:c.1238delMANE SELECT
  • NP_001393488.1:p.Leu438fs
  • NP_001393489.1:p.Leu429fs
  • NP_001393490.1:p.Leu413fs
  • NP_001393491.1:p.Leu413fs
  • NP_001393492.1:p.Leu413fs
  • NP_001393493.1:p.Leu413fs
  • NP_001393494.1:p.Leu413fs
  • NP_001393495.1:p.Leu413fs
  • NP_001393496.1:p.Leu413fs
  • NP_001393497.1:p.Leu413fs
  • NP_001393498.1:p.Leu413fs
  • NP_001393499.1:p.Leu413fs
  • NP_001393500.1:p.Leu413fs
  • NP_001393501.1:p.Leu413fs
  • NP_001393502.1:p.Leu413fs
  • NP_001393503.1:p.Leu413fs
  • NP_001393504.1:p.Leu413fs
  • NP_001393505.1:p.Leu413fs
  • NP_001393506.1:p.Leu413fs
  • NP_001393507.1:p.Leu413fs
  • NP_001393508.1:p.Leu413fs
  • NP_001393509.1:p.Leu413fs
  • NP_001393510.1:p.Leu413fs
  • NP_001393511.1:p.Leu413fs
  • NP_001393512.1:p.Leu411fs
  • NP_001393513.1:p.Leu385fs
  • NP_001393514.1:p.Leu385fs
  • NP_001393515.1:p.Leu385fs
  • NP_001393516.1:p.Leu385fs
  • NP_001393517.1:p.Leu385fs
  • NP_001393518.1:p.Leu299fs
  • NP_004320.2:p.Leu413Argfs
  • NP_004320.2:p.Leu413fs
  • LRG_298t1:c.1238del
  • LRG_298:g.169953del
  • LRG_298p1:p.Leu413Argfs
  • NC_000010.10:g.88681348del
  • NM_004329.2:c.1238delT
  • NR_176211.1:n.1806del
  • NR_176212.1:n.1806del
  • NR_176213.1:n.1806del
Protein change:
L299fs
Molecular consequence:
  • NM_001406559.1:c.1313del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406560.1:c.1286del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406561.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406562.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406563.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406564.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406565.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406566.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406567.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406568.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406569.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406570.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406571.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406572.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406573.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406574.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406575.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406576.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406577.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406578.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406579.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406580.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406581.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406582.1:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406583.1:c.1232del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406584.1:c.1154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406585.1:c.1154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406586.1:c.1154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406587.1:c.1154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406588.1:c.1154del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406589.1:c.896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004329.3:c.1238del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_176211.1:n.1806del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176212.1:n.1806del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176213.1:n.1806del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004930951Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Mar 1, 2024) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004930951.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: May 7, 2024