NM_004329.3(BMPR1A):c.369del (p.Glu123fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 3, 2014
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:: RCV000115828.2

Allele description [Variation Report for NM_004329.3(BMPR1A):c.369del (p.Glu123fs)]

NM_004329.3(BMPR1A):c.369del (p.Glu123fs)

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.369del (p.Glu123fs)

HGVS:

NC_000010.11:g.86899829del
NG_009362.1:g.148191del
NM_004329.3:c.369delMANE SELECT
NP_004320.2:p.Glu123fs
LRG_298:g.148191del
NC_000010.10:g.88659586del
NM_004329.2:c.369delA
p.E123DfsX21

Protein change:

E123fs

Links:

dbSNP: rs587780109

NCBI 1000 Genomes Browser:

rs587780109

Molecular consequence:

NM_004329.3:c.369del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000149737	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 3, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000149737

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 3, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000149737.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This pathogenic variant is denoted BMPR1A c.369delA at the cDNA level and p.Glu123AspfsX21 (E123DfsX21) at the protein level. The normal sequence, with the base that is deleted in brackets, is TAGA(delA)TGTT. The deletion causes a frameshift, which changes a Glutamic Acid to an Aspartic Acid at codon 123, and creates a premature stop codon at position 21 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is considered pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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