ClinVar Genomic variation as it relates to human health
NM_000038.6(APC):c.3325_3326del (p.Gly1109fs)
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.3325_3326del (p.Gly1109fs)
Variation ID: 2583930 Accession: VCV002583930.1
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 5q22.2 5: 112838919-112838920 (GRCh38) [ NCBI UCSC ] 5: 112174616-112174617 (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 8, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000038.6:c.3325_3326del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000029.2:p.Gly1109fs frameshift NM_001127510.3:c.3325_3326del NP_001120982.1:p.Gly1109fs frameshift NM_001127511.3:c.3271_3272del NP_001120983.2:p.Gly1091fs frameshift NM_001354895.2:c.3325_3326del NP_001341824.1:p.Gly1109fs frameshift NM_001354896.2:c.3379_3380del NP_001341825.1:p.Gly1127fs frameshift NM_001354897.2:c.3355_3356del NP_001341826.1:p.Gly1119fs frameshift NM_001354898.2:c.3250_3251del NP_001341827.1:p.Gly1084fs frameshift NM_001354899.2:c.3241_3242del NP_001341828.1:p.Gly1081fs frameshift NM_001354900.2:c.3202_3203del NP_001341829.1:p.Gly1068fs frameshift NM_001354901.2:c.3148_3149del NP_001341830.1:p.Gly1050fs frameshift NM_001354902.2:c.3052_3053del NP_001341831.1:p.Gly1018fs frameshift NM_001354903.2:c.3022_3023del NP_001341832.1:p.Gly1008fs frameshift NM_001354904.2:c.2947_2948del NP_001341833.1:p.Gly983fs frameshift NM_001354905.2:c.2845_2846del NP_001341834.1:p.Gly949fs frameshift NM_001354906.2:c.2476_2477del NP_001341835.1:p.Gly826fs frameshift NM_001407446.1:c.3409_3410del NP_001394375.1:p.Gly1137fs frameshift NM_001407447.1:c.3379_3380del NP_001394376.1:p.Gly1127fs frameshift NM_001407448.1:c.3379_3380del NP_001394377.1:p.Gly1127fs frameshift NM_001407449.1:c.3379_3380del NP_001394378.1:p.Gly1127fs frameshift NM_001407450.1:c.3325_3326del NP_001394379.1:p.Gly1109fs frameshift NM_001407451.1:c.3304_3305del NP_001394380.1:p.Gly1102fs frameshift NM_001407452.1:c.3295_3296del NP_001394381.1:p.Gly1099fs frameshift NM_001407453.1:c.3148_3149del NP_001394382.1:p.Gly1050fs frameshift NM_001407454.1:c.3076_3077del NP_001394383.1:p.Gly1026fs frameshift NM_001407455.1:c.3076_3077del NP_001394384.1:p.Gly1026fs frameshift NM_001407456.1:c.3076_3077del NP_001394385.1:p.Gly1026fs frameshift NM_001407457.1:c.3076_3077del NP_001394386.1:p.Gly1026fs frameshift NM_001407458.1:c.3022_3023del NP_001394387.1:p.Gly1008fs frameshift NM_001407459.1:c.3022_3023del NP_001394388.1:p.Gly1008fs frameshift NM_001407460.1:c.3022_3023del NP_001394389.1:p.Gly1008fs frameshift NM_001407467.1:c.2938_2939del NP_001394396.1:p.Gly980fs frameshift NM_001407469.1:c.2938_2939del NP_001394398.1:p.Gly980fs frameshift NM_001407470.1:c.2476_2477del NP_001394399.1:p.Gly826fs frameshift NM_001407471.1:c.2173_2174del NP_001394400.1:p.Gly725fs frameshift NM_001407472.1:c.2173_2174del NP_001394401.1:p.Gly725fs frameshift NR_176365.1:n.3160_3161del non-coding transcript variant NR_176366.1:n.3579_3580del non-coding transcript variant NC_000005.10:g.112838919_112838920del NC_000005.9:g.112174616_112174617del NG_008481.4:g.151399_151400del LRG_130:g.151399_151400del LRG_130t1:c.3325_3326del LRG_130p1:p.Gly1109Phefs LRG_130t2:c.3325_3326del LRG_130p2:p.Gly1109Phefs LRG_130t3:c.3325_3326del LRG_130p3:p.Gly1109Phefs - Protein change
- G1008fs, G1018fs, G1026fs, G1050fs, G1068fs, G1081fs, G1084fs, G1091fs, G1099fs, G1102fs, G1109fs, G1119fs, G1127fs, G1137fs, G725fs, G826fs, G949fs, G980fs, G983fs
- Other names
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- Canonical SPDI
- NC_000005.10:112838918:GG:
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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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APC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
14956 | 15094 |
Conditions - Germline
Condition
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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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May 8, 2023 | RCV004566244.1 |
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
(May 08, 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: SCV004044842.2
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.