NM_004329.3(BMPR1A):c.75T>G (p.Asn25Lys) AND Juvenile polyposis syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 6, 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:: RCV004802613.1

Allele description [Variation Report for NM_004329.3(BMPR1A):c.75T>G (p.Asn25Lys)]

NM_004329.3(BMPR1A):c.75T>G (p.Asn25Lys)

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.75T>G (p.Asn25Lys)

HGVS:

NC_000010.11:g.86890069T>G
NG_009362.1:g.138431T>G
NM_001406559.1:c.75T>G
NM_001406560.1:c.75T>G
NM_001406561.1:c.75T>G
NM_001406562.1:c.75T>G
NM_001406563.1:c.75T>G
NM_001406564.1:c.75T>G
NM_001406565.1:c.75T>G
NM_001406566.1:c.75T>G
NM_001406567.1:c.75T>G
NM_001406568.1:c.75T>G
NM_001406569.1:c.75T>G
NM_001406570.1:c.75T>G
NM_001406571.1:c.75T>G
NM_001406572.1:c.75T>G
NM_001406573.1:c.75T>G
NM_001406574.1:c.75T>G
NM_001406575.1:c.75T>G
NM_001406576.1:c.75T>G
NM_001406577.1:c.75T>G
NM_001406578.1:c.75T>G
NM_001406579.1:c.75T>G
NM_001406580.1:c.75T>G
NM_001406581.1:c.75T>G
NM_001406582.1:c.75T>G
NM_001406583.1:c.75T>G
NM_001406584.1:c.-10T>G
NM_001406585.1:c.-10T>G
NM_001406586.1:c.-10T>G
NM_001406587.1:c.-10T>G
NM_001406588.1:c.-10T>G
NM_001406589.1:c.75T>G
NM_004329.3:c.75T>GMANE SELECT
NP_001393488.1:p.Asn25Lys
NP_001393489.1:p.Asn25Lys
NP_001393490.1:p.Asn25Lys
NP_001393491.1:p.Asn25Lys
NP_001393492.1:p.Asn25Lys
NP_001393493.1:p.Asn25Lys
NP_001393494.1:p.Asn25Lys
NP_001393495.1:p.Asn25Lys
NP_001393496.1:p.Asn25Lys
NP_001393497.1:p.Asn25Lys
NP_001393498.1:p.Asn25Lys
NP_001393499.1:p.Asn25Lys
NP_001393500.1:p.Asn25Lys
NP_001393501.1:p.Asn25Lys
NP_001393502.1:p.Asn25Lys
NP_001393503.1:p.Asn25Lys
NP_001393504.1:p.Asn25Lys
NP_001393505.1:p.Asn25Lys
NP_001393506.1:p.Asn25Lys
NP_001393507.1:p.Asn25Lys
NP_001393508.1:p.Asn25Lys
NP_001393509.1:p.Asn25Lys
NP_001393510.1:p.Asn25Lys
NP_001393511.1:p.Asn25Lys
NP_001393512.1:p.Asn25Lys
NP_001393518.1:p.Asn25Lys
NP_004320.2:p.Asn25Lys
NP_004320.2:p.Asn25Lys
LRG_298t1:c.75T>G
LRG_298:g.138431T>G
LRG_298p1:p.Asn25Lys
NC_000010.10:g.88649826T>G
NM_004329.2:c.75T>G
NR_176211.1:n.643T>G
NR_176212.1:n.643T>G
NR_176213.1:n.643T>G

Protein change:

N25K

Molecular consequence:

NM_001406584.1:c.-10T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406585.1:c.-10T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406586.1:c.-10T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406587.1:c.-10T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406588.1:c.-10T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001406559.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406560.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406561.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406562.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406563.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406564.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406565.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406566.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406567.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406568.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406569.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406570.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406571.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406572.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406573.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406574.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406575.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406576.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406577.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406578.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406579.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406580.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406581.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406582.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406583.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406589.1:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004329.3:c.75T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_176211.1:n.643T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176212.1:n.643T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176213.1:n.643T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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
SCV005423866	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Aug 6, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005423866

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Aug 6, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	143475	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV005423866.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	143475	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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