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NM_004329.2(BMPR1A):c.1098A>C (p.Lys366Asn)

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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 6, 2018
Accession:
VCV000411620.2
Variation ID:
411620
Description:
single nucleotide variant
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NM_004329.2(BMPR1A):c.1098A>C (p.Lys366Asn)

Allele ID
397660
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.2
Genomic location
10: 86919401 (GRCh38) GRCh38 UCSC
10: 88679158 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.88679158A>C
NC_000010.11:g.86919401A>C
NM_004329.2:c.1098A>C NP_004320.2:p.Lys366Asn missense
... more HGVS
Protein change
K366N
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16612988
dbSNP: rs1060503397
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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 Dec 6, 2018 RCV000467828.3
Uncertain significance 1 criteria provided, single submitter Jul 20, 2018 RCV000759475.1
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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 20, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888815.1
Submitted: (Aug 31, 2018)
Evidence details
Uncertain significance
(Dec 06, 2018)
criteria provided, single submitter
Method: clinical testing
Juvenile polyposis syndrome
Allele origin: germline
Invitae
Accession: SCV000552851.4
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces lysine with asparagine at codon 366 of the BMPR1A protein (p.Lys366Asn). The lysine residue is highly conserved and there is a ... (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