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NM_004329.2(BMPR1A):c.114C>G (p.Asp38Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 1, 2018
Accession:
VCV000482856.2
Variation ID:
482856
Description:
single nucleotide variant
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NM_004329.2(BMPR1A):c.114C>G (p.Asp38Glu)

Allele ID
475121
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.2
Genomic location
10: 86890108 (GRCh38) GRCh38 UCSC
10: 88649865 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.88649865C>G
NC_000010.11:g.86890108C>G
NM_004329.2:c.114C>G NP_004320.2:p.Asp38Glu missense
... more HGVS
Protein change
D38E
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA211182733
dbSNP: rs1021443408
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 19, 2017 RCV000573226.1
Uncertain significance 1 criteria provided, single submitter Dec 1, 2018 RCV000822318.1
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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
888 929

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 19, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000668331.2
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Uncertain significance
(Dec 01, 2018)
criteria provided, single submitter
Method: clinical testing
Juvenile polyposis syndrome
Allele origin: germline
Invitae
Accession: SCV000963116.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces aspartic acid with glutamic acid at codon 38 of the BMPR1A protein (p.Asp38Glu). The aspartic acid residue is weakly conserved and ... (more)

Citations for this variant

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

Record last updated Oct 27, 2019