NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 24, 2017
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:: RCV000522325.1

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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LOC127753341 [Oryza glaberrima]
LOC127753341 [Oryza glaberrima]
Gene ID:127753341

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000617650	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jul 24, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000617650

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jul 24, 2017)

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, SCV000617650.2

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

Description

This variant is denoted BMPR1A c.697C>T at the cDNA level and p.Gln233Ter (Q233X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG),and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. This variant has been reported in at least one individual with juvenile polyps (Ngeow 2013) and is consideredlikely 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: Sep 29, 2024

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