Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_004329.2(BMPR1A):c.499A>T (p.Met167Leu)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 7, 2021)
Last evaluated:
Aug 3, 2021
Accession:
VCV000187206.7
Variation ID:
187206
Description:
single nucleotide variant
Help

NM_004329.2(BMPR1A):c.499A>T (p.Met167Leu)

Allele ID
182970
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.2
Genomic location
10: 86900095 (GRCh38) GRCh38 UCSC
10: 88659852 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_298t1:c.499A>T LRG_298p1:p.Met167Leu
LRG_298:g.148457A>T
NC_000010.10:g.88659852A>T
... more HGVS
Protein change
M167L
Other names
-
Canonical SPDI
NC_000010.11:86900094:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs200951235
ClinGen: CA197010
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Nov 23, 2018 RCV000166911.2
Uncertain significance 1 criteria provided, single submitter Aug 3, 2021 RCV000761022.2
Uncertain significance 1 criteria provided, single submitter Feb 4, 2019 RCV001060391.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BMPR1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1391 1442

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 19, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000217729.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.M167L variant (also known as c.499A>T), located in coding exon 5 of the BMPR1A gene, results from an A to T substitution at nucleotide … (more)
Uncertain significance
(Feb 04, 2019)
criteria provided, single submitter
Method: clinical testing
Juvenile polyposis syndrome
Allele origin: germline
Invitae
Accession: SCV001225074.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces methionine with leucine at codon 167 of the BMPR1A protein (p.Met167Leu). The methionine residue is moderately conserved and there is a … (more)
Uncertain significance
(Aug 03, 2021)
criteria provided, single submitter
Method: clinical testing
Generalized juvenile polyposis/juvenile polyposis coli
Allele origin: germline
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital
Accession: SCV000890937.2
Submitted: (Aug 07, 2021)
Evidence details
Uncertain significance
(Nov 23, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001358612.1
Submitted: (May 19, 2020)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs200951235...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021