ClinVar Genomic variation as it relates to human health
NM_004329.3(BMPR1A):c.636_641del (p.212QS[1])
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.636_641del (p.212QS[1])
Variation ID: 3223960 Accession: VCV003223960.1
- Type and length
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Deletion, 6 bp
- Location
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Cytogenetic: 10q23.2 10: 86912343-86912348 (GRCh38) [ NCBI UCSC ] 10: 88672100-88672105 (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 May 1, 2024 May 1, 2024 Oct 16, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004329.3:c.636_641del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004320.2:p.212QS[1] inframe deletion NM_001406559.1:c.711_716del NP_001393488.1:p.237QS[1] inframe deletion NM_001406560.1:c.684_689del NP_001393489.1:p.228QS[1] inframe deletion NM_001406561.1:c.636_641del NP_001393490.1:p.212QS[1] inframe deletion NM_001406562.1:c.636_641del NP_001393491.1:p.212QS[1] inframe deletion NM_001406563.1:c.636_641del NP_001393492.1:p.212QS[1] inframe deletion NM_001406564.1:c.636_641del NP_001393493.1:p.212QS[1] inframe deletion NM_001406565.1:c.636_641del NP_001393494.1:p.212QS[1] inframe deletion NM_001406566.1:c.636_641del NP_001393495.1:p.212QS[1] inframe deletion NM_001406567.1:c.636_641del NP_001393496.1:p.212QS[1] inframe deletion NM_001406568.1:c.636_641del NP_001393497.1:p.212QS[1] inframe deletion NM_001406569.1:c.636_641del NP_001393498.1:p.212QS[1] inframe deletion NM_001406570.1:c.636_641del NP_001393499.1:p.212QS[1] inframe deletion NM_001406571.1:c.636_641del NP_001393500.1:p.212QS[1] inframe deletion NM_001406572.1:c.636_641del NP_001393501.1:p.212QS[1] inframe deletion NM_001406573.1:c.636_641del NP_001393502.1:p.212QS[1] inframe deletion NM_001406574.1:c.636_641del NP_001393503.1:p.212QS[1] inframe deletion NM_001406575.1:c.636_641del NP_001393504.1:p.212QS[1] inframe deletion NM_001406576.1:c.636_641del NP_001393505.1:p.212QS[1] inframe deletion NM_001406577.1:c.636_641del NP_001393506.1:p.212QS[1] inframe deletion NM_001406578.1:c.636_641del NP_001393507.1:p.212QS[1] inframe deletion NM_001406579.1:c.636_641del NP_001393508.1:p.212QS[1] inframe deletion NM_001406580.1:c.636_641del NP_001393509.1:p.212QS[1] inframe deletion NM_001406581.1:c.636_641del NP_001393510.1:p.212QS[1] inframe deletion NM_001406582.1:c.636_641del NP_001393511.1:p.212QS[1] inframe deletion NM_001406583.1:c.636_641del NP_001393512.1:p.212QS[1] inframe deletion NM_001406584.1:c.552_557del NP_001393513.1:p.184QS[1] inframe deletion NM_001406585.1:c.552_557del NP_001393514.1:p.184QS[1] inframe deletion NM_001406586.1:c.552_557del NP_001393515.1:p.184QS[1] inframe deletion NM_001406587.1:c.552_557del NP_001393516.1:p.184QS[1] inframe deletion NM_001406588.1:c.552_557del NP_001393517.1:p.184QS[1] inframe deletion NM_001406589.1:c.334-4789_334-4784del intron variant NR_176211.1:n.1204_1209del non-coding transcript variant NR_176212.1:n.1204_1209del non-coding transcript variant NR_176213.1:n.1204_1209del non-coding transcript variant NC_000010.11:g.86912345_86912350del NC_000010.10:g.88672102_88672107del NG_009362.1:g.160707_160712del LRG_298:g.160707_160712del LRG_298t1:c.636_641del LRG_298p1:p.Gln214_Ser215del - Protein change
- Other names
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- Canonical SPDI
- NC_000010.11:86912342:CAGTCACA:CA
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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
Help
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
Help
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 |
2290 | 2386 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
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
Help
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
Help
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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Uncertain significance (1) |
criteria provided, single submitter
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Oct 16, 2023 | RCV004516724.1 |
Submissions - Germline
Classification
Help
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
Help
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
Help
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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Uncertain significance
(Oct 16, 2023)
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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: SCV005021999.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.636_641delGTCACA variant (also known as p.Q214_S215del) is located in coding exon 6 of the BMPR1A gene. This variant results from an in-frame GTCACA deletion … (more)
The c.636_641delGTCACA variant (also known as p.Q214_S215del) is located in coding exon 6 of the BMPR1A gene. This variant results from an in-frame GTCACA deletion at nucleotide positions 636 to 641. This results in the in-frame deletion of a glutamine and a serine at codons 214 to 215. This amino acid region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (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 08, 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.