ClinVar Genomic variation as it relates to human health
NM_001372051.1(CASP8):c.1349_1352del (p.Val450fs)
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_001372051.1(CASP8):c.1349_1352del (p.Val450fs)
Variation ID: 2151955 Accession: VCV002151955.1
- Type and length
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Deletion, 4 bp
- Location
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Cytogenetic: 2q33.1 2: 201286500-201286503 (GRCh38) [ NCBI UCSC ] 2: 202151223-202151226 (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 Feb 8, 2023 Feb 7, 2023 Sep 27, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001372051.1:c.1349_1352del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001358980.1:p.Val450fs frameshift NM_001080124.2:c.1304_1307del NP_001073593.1:p.Val435fs frameshift NM_001080125.2:c.1526_1529del NP_001073594.1:p.Val509fs frameshift NM_001228.5:c.1400_1403delTAAG NP_001219.2:p.Val467Alafs frameshift NM_001400642.1:c.1481_1484del NP_001387571.1:p.Val494fs frameshift NM_001400645.1:c.1382_1385del NP_001387574.1:p.Val461fs frameshift NM_001400648.1:c.1349_1352del NP_001387577.1:p.Val450fs frameshift NM_001400651.1:c.1349_1352del NP_001387580.1:p.Val450fs frameshift NM_001400653.1:c.1349_1352del NP_001387582.1:p.Val450fs frameshift NM_001400654.1:c.1349_1352del NP_001387583.1:p.Val450fs frameshift NM_001400655.1:c.1349_1352del NP_001387584.1:p.Val450fs frameshift NM_001400656.1:c.1349_1352del NP_001387585.1:p.Val450fs frameshift NM_001400657.1:c.1349_1352del NP_001387586.1:p.Val450fs frameshift NM_001400658.1:c.1304_1307del NP_001387587.1:p.Val435fs frameshift NM_001400659.1:c.1304_1307del NP_001387588.1:p.Val435fs frameshift NM_001400660.1:c.1304_1307del NP_001387589.1:p.Val435fs frameshift NM_001400661.1:c.1304_1307del NP_001387590.1:p.Val435fs frameshift NM_001400662.1:c.1304_1307del NP_001387591.1:p.Val435fs frameshift NM_001400663.1:c.1304_1307del NP_001387592.1:p.Val435fs frameshift NM_001400664.1:c.1280_1283del NP_001387593.1:p.Val427fs frameshift NM_001400665.1:c.1274_1277del NP_001387594.1:p.Val425fs frameshift NM_001400666.1:c.1142_1145del NP_001387595.1:p.Val381fs frameshift NM_001400667.1:c.1097_1100del NP_001387596.1:p.Val366fs frameshift NM_001400668.1:c.1097_1100del NP_001387597.1:p.Val366fs frameshift NM_001400669.1:c.1040_1043del NP_001387598.1:p.Val347fs frameshift NM_001400670.1:c.902_905del NP_001387599.1:p.Val301fs frameshift NM_001400671.1:c.752_755del NP_001387600.1:p.Val251fs frameshift NM_001400672.1:c.752_755del NP_001387601.1:p.Val251fs frameshift NM_001400673.1:c.752_755del NP_001387602.1:p.Val251fs frameshift NM_001400674.1:c.734_737del NP_001387603.1:p.Val245fs frameshift NM_001400675.1:c.707_710del NP_001387604.1:p.Val236fs frameshift NM_001400676.1:c.707_710del NP_001387605.1:p.Val236fs frameshift NM_001400677.1:c.707_710del NP_001387606.1:p.Val236fs frameshift NM_001400678.1:c.707_710del NP_001387607.1:p.Val236fs frameshift NM_001400680.1:c.734_737del NP_001387609.1:p.Val245fs frameshift NM_001400750.1:c.752_755del NP_001387679.1:p.Val251fs frameshift NM_001400751.1:c.707_710del NP_001387680.1:p.Val236fs frameshift NM_033355.4:c.1349_1352delTAAG NP_203519.1:p.Val450Alafs frameshift NM_033356.4:c.1304_1307del NP_203520.1:p.Val435fs frameshift NR_111983.2:n.1859_1862del non-coding transcript variant NR_174564.1:n.1438_1441del non-coding transcript variant NR_174565.1:n.1568_1571del non-coding transcript variant NR_174581.1:n.1594_1597del non-coding transcript variant NR_174583.1:n.1700_1703del non-coding transcript variant NR_174584.1:n.1613_1616del non-coding transcript variant NR_174585.1:n.1631_1634del non-coding transcript variant NR_174586.1:n.1605_1608del non-coding transcript variant NR_174588.1:n.1768_1771del non-coding transcript variant NR_174589.1:n.1563_1566del non-coding transcript variant NR_174590.1:n.1655_1658del non-coding transcript variant NR_174591.1:n.1586_1589del non-coding transcript variant NR_174592.1:n.1931_1934del non-coding transcript variant NR_174593.1:n.1729_1732del non-coding transcript variant NR_174594.1:n.1772_1775del non-coding transcript variant NR_174595.1:n.1687_1690del non-coding transcript variant NR_174596.1:n.1524_1527del non-coding transcript variant NR_174597.1:n.1524_1527delTAAG NR_174598.1:n.1882_1885del non-coding transcript variant NR_174599.1:n.1266_1269del non-coding transcript variant NR_174600.1:n.1794_1797del non-coding transcript variant NR_174601.1:n.1719_1722del non-coding transcript variant NR_174602.1:n.1589_1592del non-coding transcript variant NC_000002.12:g.201286503_201286506del NC_000002.11:g.202151226_202151229del NG_007497.1:g.58046_58049del LRG_34:g.58046_58049del LRG_34t1:c.1400_1403del LRG_34p1:p.Val467fs LRG_34t2:c.1349_1352del LRG_34p2:p.Val450fs LRG_34t3:c.1349_1352del LRG_34p3:p.Val450fs - Protein change
- V347fs, V366fs, V425fs, V450fs, V494fs, V301fs, V381fs, V427fs, V461fs, V509fs, V245fs, V251fs, V236fs, V435fs, V467fs
- Other names
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- Canonical SPDI
- NC_000002.12:201286499:AAGTAAG:AAG
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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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CASP8 | - | - |
GRCh38 GRCh37 |
317 | 359 |
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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Uncertain significance (1) |
criteria provided, single submitter
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Sep 27, 2022 | RCV003061539.1 |
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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Uncertain significance
(Sep 27, 2022)
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criteria provided, single submitter
Method: clinical testing
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Autoimmune lymphoproliferative syndrome type 2B
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV003460732.1
First in ClinVar: Feb 07, 2023 Last updated: Feb 07, 2023 |
Comment:
This sequence change creates a premature translational stop signal (p.Val467Alafs*20) in the CASP8 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Val467Alafs*20) in the CASP8 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the CASP8 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with prostate cancer (PMID: 26556299). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (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
HelpTitle | Author | Journal | Year | Link |
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Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. | Schrader KA | JAMA oncology | 2016 | PMID: 26556299 |
Text-mined citations for this variant ...
HelpRecord last updated Oct 15, 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.