ClinVar Genomic variation as it relates to human health
NM_000038.6(APC):c.6985dup (p.Ile2329fs)
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_000038.6(APC):c.6985dup (p.Ile2329fs)
Variation ID: 2583250 Accession: VCV002583250.1
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 5q22.2 5: 112842577-112842578 (GRCh38) [ NCBI UCSC ] 5: 112178274-112178275 (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 Oct 21, 2023 Oct 28, 2023 May 16, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000038.6:c.6985dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000029.2:p.Ile2329fs frameshift NM_001127510.3:c.6985dup NP_001120982.1:p.Ile2329fs frameshift NM_001127511.3:c.6931dup NP_001120983.2:p.Ile2311fs frameshift NM_001354895.2:c.6985dup NP_001341824.1:p.Ile2329fs frameshift NM_001354896.2:c.7039dup NP_001341825.1:p.Ile2347fs frameshift NM_001354897.2:c.7015dup NP_001341826.1:p.Ile2339fs frameshift NM_001354898.2:c.6910dup NP_001341827.1:p.Ile2304fs frameshift NM_001354899.2:c.6901dup NP_001341828.1:p.Ile2301fs frameshift NM_001354900.2:c.6862dup NP_001341829.1:p.Ile2288fs frameshift NM_001354901.2:c.6808dup NP_001341830.1:p.Ile2270fs frameshift NM_001354902.2:c.6712dup NP_001341831.1:p.Ile2238fs frameshift NM_001354903.2:c.6682dup NP_001341832.1:p.Ile2228fs frameshift NM_001354904.2:c.6607dup NP_001341833.1:p.Ile2203fs frameshift NM_001354905.2:c.6505dup NP_001341834.1:p.Ile2169fs frameshift NM_001354906.2:c.6136dup NP_001341835.1:p.Ile2046fs frameshift NM_001407446.1:c.7069dup NP_001394375.1:p.Ile2357fs frameshift NM_001407447.1:c.7039dup NP_001394376.1:p.Ile2347fs frameshift NM_001407448.1:c.7039dup NP_001394377.1:p.Ile2347fs frameshift NM_001407449.1:c.7039dup NP_001394378.1:p.Ile2347fs frameshift NM_001407450.1:c.6985dup NP_001394379.1:p.Ile2329fs frameshift NM_001407451.1:c.6964dup NP_001394380.1:p.Ile2322fs frameshift NM_001407452.1:c.6955dup NP_001394381.1:p.Ile2319fs frameshift NM_001407453.1:c.6808dup NP_001394382.1:p.Ile2270fs frameshift NM_001407454.1:c.6736dup NP_001394383.1:p.Ile2246fs frameshift NM_001407455.1:c.6736dup NP_001394384.1:p.Ile2246fs frameshift NM_001407456.1:c.6736dup NP_001394385.1:p.Ile2246fs frameshift NM_001407457.1:c.6736dup NP_001394386.1:p.Ile2246fs frameshift NM_001407458.1:c.6682dup NP_001394387.1:p.Ile2228fs frameshift NM_001407459.1:c.6682dup NP_001394388.1:p.Ile2228fs frameshift NM_001407460.1:c.6682dup NP_001394389.1:p.Ile2228fs frameshift NM_001407467.1:c.6598dup NP_001394396.1:p.Ile2200fs frameshift NM_001407469.1:c.6598dup NP_001394398.1:p.Ile2200fs frameshift NM_001407470.1:c.6136dup NP_001394399.1:p.Ile2046fs frameshift NM_001407471.1:c.5833dup NP_001394400.1:p.Ile1945fs frameshift NM_001407472.1:c.5833dup NP_001394401.1:p.Ile1945fs frameshift NR_176365.1:n.6820dup non-coding transcript variant NR_176366.1:n.7239dup non-coding transcript variant NC_000005.10:g.112842579dup NC_000005.9:g.112178276dup NG_008481.4:g.155059dup LRG_130:g.155059dup LRG_130t1:c.6985dup LRG_130p1:p.Ile2329Asnfs LRG_130t2:c.6985dup LRG_130p2:p.Ile2329Asnfs LRG_130t3:c.6985dup LRG_130p3:p.Ile2329Asnfs - Protein change
- I1945fs, I2046fs, I2169fs, I2200fs, I2203fs, I2228fs, I2238fs, I2246fs, I2270fs, I2288fs, I2301fs, I2304fs, I2311fs, I2319fs, I2322fs, I2329fs, I2339fs, I2347fs, I2357fs
- Other names
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- Canonical SPDI
- NC_000005.10:112842577:AA:AAA
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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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APC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
14956 | 15094 |
Conditions - Germline
Condition
Help
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
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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May 16, 2023 | RCV003337436.1 |
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
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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
(May 16, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 1
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004043639.2
First in ClinVar: Oct 21, 2023 Last updated: Oct 28, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
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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 Oct 13, 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.