NM_004329.3(BMPR1A):c.712C>A (p.Arg238=) AND Juvenile polyposis syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 5, 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:: RCV004788746.1

Allele description [Variation Report for NM_004329.3(BMPR1A):c.712C>A (p.Arg238=)]

NM_004329.3(BMPR1A):c.712C>A (p.Arg238=)

Gene:

BMPR1A:bone morphogenetic protein receptor type 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NM_004329.3(BMPR1A):c.712C>A (p.Arg238=)

HGVS:

NC_000010.11:g.86917170C>A
NG_009362.1:g.165532C>A
NM_001406559.1:c.787C>A
NM_001406560.1:c.760C>A
NM_001406561.1:c.712C>A
NM_001406562.1:c.712C>A
NM_001406563.1:c.712C>A
NM_001406564.1:c.712C>A
NM_001406565.1:c.712C>A
NM_001406566.1:c.712C>A
NM_001406567.1:c.712C>A
NM_001406568.1:c.712C>A
NM_001406569.1:c.712C>A
NM_001406570.1:c.712C>A
NM_001406571.1:c.712C>A
NM_001406572.1:c.712C>A
NM_001406573.1:c.712C>A
NM_001406574.1:c.712C>A
NM_001406575.1:c.712C>A
NM_001406576.1:c.712C>A
NM_001406577.1:c.712C>A
NM_001406578.1:c.712C>A
NM_001406579.1:c.712C>A
NM_001406580.1:c.712C>A
NM_001406581.1:c.712C>A
NM_001406582.1:c.712C>A
NM_001406583.1:c.706C>A
NM_001406584.1:c.628C>A
NM_001406585.1:c.628C>A
NM_001406586.1:c.628C>A
NM_001406587.1:c.628C>A
NM_001406588.1:c.628C>A
NM_001406589.1:c.370C>A
NM_004329.3:c.712C>AMANE SELECT
NP_001393488.1:p.Arg263=
NP_001393489.1:p.Arg254=
NP_001393490.1:p.Arg238=
NP_001393491.1:p.Arg238=
NP_001393492.1:p.Arg238=
NP_001393493.1:p.Arg238=
NP_001393494.1:p.Arg238=
NP_001393495.1:p.Arg238=
NP_001393496.1:p.Arg238=
NP_001393497.1:p.Arg238=
NP_001393498.1:p.Arg238=
NP_001393499.1:p.Arg238=
NP_001393500.1:p.Arg238=
NP_001393501.1:p.Arg238=
NP_001393502.1:p.Arg238=
NP_001393503.1:p.Arg238=
NP_001393504.1:p.Arg238=
NP_001393505.1:p.Arg238=
NP_001393506.1:p.Arg238=
NP_001393507.1:p.Arg238=
NP_001393508.1:p.Arg238=
NP_001393509.1:p.Arg238=
NP_001393510.1:p.Arg238=
NP_001393511.1:p.Arg238=
NP_001393512.1:p.Arg236=
NP_001393513.1:p.Arg210=
NP_001393514.1:p.Arg210=
NP_001393515.1:p.Arg210=
NP_001393516.1:p.Arg210=
NP_001393517.1:p.Arg210=
NP_001393518.1:p.Arg124=
NP_004320.2:p.Arg238=
NP_004320.2:p.Arg238=
LRG_298t1:c.712C>A
LRG_298:g.165532C>A
LRG_298p1:p.Arg238=
NC_000010.10:g.88676927C>A
NM_004329.2:c.712C>A
NR_176211.1:n.1280C>A
NR_176212.1:n.1280C>A
NR_176213.1:n.1280C>A

Molecular consequence:

NR_176211.1:n.1280C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176212.1:n.1280C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176213.1:n.1280C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001406559.1:c.787C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406560.1:c.760C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406561.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406562.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406563.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406564.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406565.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406566.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406567.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406568.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406569.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406570.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406571.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406572.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406573.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406574.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406575.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406576.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406577.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406578.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406579.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406580.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406581.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406582.1:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406583.1:c.706C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406584.1:c.628C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406585.1:c.628C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406586.1:c.628C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406587.1:c.628C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406588.1:c.628C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406589.1:c.370C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004329.3:c.712C>A - synonymous variant - [Sequence Ontology: SO:0001819]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005402910	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Benign (Aug 5, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005402910

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Benign
(Aug 5, 2024)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV005402910.1

#	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 considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine