ClinVar Genomic variation as it relates to human health
NM_004329.3(BMPR1A):c.364del (p.Thr121_Ile122insTer)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_004329.3(BMPR1A):c.364del (p.Thr121_Ile122insTer)
Variation ID: 1733592 Accession: VCV001733592.2
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 10q23.2 10: 86899823 (GRCh38) [ NCBI UCSC ] 10: 88659580 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 29, 2022 May 1, 2024 Sep 29, 2020 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004329.3:c.364del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004320.2:p.Thr121_Ile122insTer nonsense NM_001406559.1:c.364delA NP_001393488.1:p.Ile122Terfs frameshift nonsense NM_001406560.1:c.364delA NP_001393489.1:p.Ile122Terfs frameshift nonsense NM_001406561.1:c.364delA NP_001393490.1:p.Ile122Terfs frameshift nonsense NM_001406562.1:c.364delA NP_001393491.1:p.Ile122Terfs frameshift nonsense NM_001406563.1:c.364delA NP_001393492.1:p.Ile122Terfs frameshift nonsense NM_001406564.1:c.364delA NP_001393493.1:p.Ile122Terfs frameshift nonsense NM_001406565.1:c.364delA NP_001393494.1:p.Ile122Terfs frameshift nonsense NM_001406566.1:c.364delA NP_001393495.1:p.Ile122Terfs frameshift nonsense NM_001406567.1:c.364delA NP_001393496.1:p.Ile122Terfs frameshift nonsense NM_001406568.1:c.364delA NP_001393497.1:p.Ile122Terfs frameshift nonsense NM_001406569.1:c.364delA NP_001393498.1:p.Ile122Terfs frameshift nonsense NM_001406570.1:c.364delA NP_001393499.1:p.Ile122Terfs frameshift nonsense NM_001406571.1:c.364delA NP_001393500.1:p.Ile122Terfs frameshift nonsense NM_001406572.1:c.364delA NP_001393501.1:p.Ile122Terfs frameshift nonsense NM_001406573.1:c.364delA NP_001393502.1:p.Ile122Terfs frameshift nonsense NM_001406574.1:c.364delA NP_001393503.1:p.Ile122Terfs frameshift nonsense NM_001406575.1:c.364delA NP_001393504.1:p.Ile122Terfs frameshift nonsense NM_001406576.1:c.364delA NP_001393505.1:p.Ile122Terfs frameshift nonsense NM_001406577.1:c.364delA NP_001393506.1:p.Ile122Terfs frameshift nonsense NM_001406578.1:c.364delA NP_001393507.1:p.Ile122Terfs frameshift nonsense NM_001406579.1:c.364delA NP_001393508.1:p.Ile122Terfs frameshift nonsense NM_001406580.1:c.364delA NP_001393509.1:p.Ile122Terfs frameshift nonsense NM_001406581.1:c.364delA NP_001393510.1:p.Ile122Terfs frameshift nonsense NM_001406582.1:c.364delA NP_001393511.1:p.Ile122Terfs frameshift nonsense NM_001406583.1:c.364delA NP_001393512.1:p.Ile122Terfs frameshift nonsense NM_001406584.1:c.280delA NP_001393513.1:p.Ile94Terfs frameshift nonsense NM_001406585.1:c.280delA NP_001393514.1:p.Ile94Terfs frameshift nonsense NM_001406586.1:c.280delA NP_001393515.1:p.Ile94Terfs frameshift nonsense NM_001406587.1:c.280delA NP_001393516.1:p.Ile94Terfs frameshift nonsense NM_001406588.1:c.280delA NP_001393517.1:p.Ile94Terfs frameshift nonsense NR_176211.1:n.932delA NR_176212.1:n.932delA NR_176213.1:n.932delA NC_000010.11:g.86899824del NC_000010.10:g.88659581del NG_009362.1:g.148186del LRG_298:g.148186del LRG_298t1:c.364del LRG_298p1:p.Ile122Terfs - Protein change
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- Other names
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- Canonical SPDI
- NC_000010.11:86899822:AA:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BMPR1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2329 | 2425 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
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Sep 29, 2020 | RCV002452480.2 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 29, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002613846.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.364delA pathogenic mutation, located in coding exon 4 of the BMPR1A gene, results from a deletion of one nucleotide at nucleotide position 364, causing … (more)
The c.364delA pathogenic mutation, located in coding exon 4 of the BMPR1A gene, results from a deletion of one nucleotide at nucleotide position 364, causing a translational frameshift with a predicted alternate stop codon (p.I122*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Germline Functional Evidence
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 germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.