ClinVar Genomic variation as it relates to human health
NM_004329.3(BMPR1A):c.534_535insAAAT (p.Tyr179fs)
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.534_535insAAAT (p.Tyr179fs)
Variation ID: 1746934 Accession: VCV001746934.1
- Type and length
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Insertion, 4 bp
- Location
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Cytogenetic: 10q23.2 10: 86912241-86912242 (GRCh38) [ NCBI UCSC ] 10: 88671998-88671999 (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 Nov 29, 2022 Nov 27, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004329.3:c.534_535insAAAT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004320.2:p.Tyr179fs frameshift NM_001406559.1:c.609_610insAAAT NP_001393488.1:p.Tyr204Lysfs frameshift NM_001406560.1:c.582_583insAAAT NP_001393489.1:p.Tyr195Lysfs frameshift NM_001406561.1:c.534_535insAAAT NP_001393490.1:p.Tyr179Lysfs frameshift NM_001406562.1:c.534_535insAAAT NP_001393491.1:p.Tyr179Lysfs frameshift NM_001406563.1:c.534_535insAAAT NP_001393492.1:p.Tyr179Lysfs frameshift NM_001406564.1:c.534_535insAAAT NP_001393493.1:p.Tyr179Lysfs frameshift NM_001406565.1:c.534_535insAAAT NP_001393494.1:p.Tyr179Lysfs frameshift NM_001406566.1:c.534_535insAAAT NP_001393495.1:p.Tyr179Lysfs frameshift NM_001406567.1:c.534_535insAAAT NP_001393496.1:p.Tyr179Lysfs frameshift NM_001406568.1:c.534_535insAAAT NP_001393497.1:p.Tyr179Lysfs frameshift NM_001406569.1:c.534_535insAAAT NP_001393498.1:p.Tyr179Lysfs frameshift NM_001406570.1:c.534_535insAAAT NP_001393499.1:p.Tyr179Lysfs frameshift NM_001406571.1:c.534_535insAAAT NP_001393500.1:p.Tyr179Lysfs frameshift NM_001406572.1:c.534_535insAAAT NP_001393501.1:p.Tyr179Lysfs frameshift NM_001406573.1:c.534_535insAAAT NP_001393502.1:p.Tyr179Lysfs frameshift NM_001406574.1:c.534_535insAAAT NP_001393503.1:p.Tyr179Lysfs frameshift NM_001406575.1:c.534_535insAAAT NP_001393504.1:p.Tyr179Lysfs frameshift NM_001406576.1:c.534_535insAAAT NP_001393505.1:p.Tyr179Lysfs frameshift NM_001406577.1:c.534_535insAAAT NP_001393506.1:p.Tyr179Lysfs frameshift NM_001406578.1:c.534_535insAAAT NP_001393507.1:p.Tyr179Lysfs frameshift NM_001406579.1:c.534_535insAAAT NP_001393508.1:p.Tyr179Lysfs frameshift NM_001406580.1:c.534_535insAAAT NP_001393509.1:p.Tyr179Lysfs frameshift NM_001406581.1:c.534_535insAAAT NP_001393510.1:p.Tyr179Lysfs frameshift NM_001406582.1:c.534_535insAAAT NP_001393511.1:p.Tyr179Lysfs frameshift NM_001406583.1:c.534_535insAAAT NP_001393512.1:p.Tyr179Lysfs frameshift NM_001406584.1:c.450_451insAAAT NP_001393513.1:p.Tyr151Lysfs frameshift NM_001406585.1:c.450_451insAAAT NP_001393514.1:p.Tyr151Lysfs frameshift NM_001406586.1:c.450_451insAAAT NP_001393515.1:p.Tyr151Lysfs frameshift NM_001406587.1:c.450_451insAAAT NP_001393516.1:p.Tyr151Lysfs frameshift NM_001406588.1:c.450_451insAAAT NP_001393517.1:p.Tyr151Lysfs frameshift NR_176211.1:n.1102_1103insAAAT NR_176212.1:n.1102_1103insAAAT NR_176213.1:n.1102_1103insAAAT NC_000010.11:g.86912243_86912244insAAAT NC_000010.10:g.88672000_88672001insAAAT NG_009362.1:g.160605_160606insAAAT LRG_298:g.160605_160606insAAAT LRG_298t1:c.534_535insAAAT LRG_298p1:p.Tyr179Lysfs - Protein change
- Y179fs
- Other names
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- Canonical SPDI
- NC_000010.11:86912241:AT:ATAAAT
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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
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 |
2245 | 2339 |
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
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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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Nov 27, 2017 | RCV002346894.1 |
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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Pathogenic
(Nov 27, 2017)
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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: SCV002643265.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The c.534_535insAAAT pathogenic mutation, located in coding exon 6 of the BMPR1A gene, results from an insertion of 4 nucleotides at position 534, causing a … (more)
The c.534_535insAAAT pathogenic mutation, located in coding exon 6 of the BMPR1A gene, results from an insertion of 4 nucleotides at position 534, causing a translational frameshift with a predicted alternate stop codon (p.Y179Kfs*15). 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)
Number of individuals with the variant: 1
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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 Dec 25, 2023
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.