ClinVar Genomic variation as it relates to human health
NM_000038.6(APC):c.332del (p.Ser111fs)
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.332del (p.Ser111fs)
Variation ID: 1730292 Accession: VCV001730292.2
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 5q22.2 5: 112767300 (GRCh38) [ NCBI UCSC ] 5: 112102997 (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 May 1, 2024 Sep 25, 2020 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000038.6:c.332del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000029.2:p.Ser111fs frameshift NM_001127510.3:c.332del NP_001120982.1:p.Ser111fs frameshift NM_001127511.3:c.362del NP_001120983.2:p.Ser121fs frameshift NM_001354895.2:c.332del NP_001341824.1:p.Ser111fs frameshift NM_001354896.2:c.332del NP_001341825.1:p.Ser111fs frameshift NM_001354897.2:c.362del NP_001341826.1:p.Ser121fs frameshift NM_001354898.2:c.257del NP_001341827.1:p.Ser86fs frameshift NM_001354899.2:c.332del NP_001341828.1:p.Ser111fs frameshift NM_001354900.2:c.155del NP_001341829.1:p.Ser52fs frameshift NM_001354901.2:c.155del NP_001341830.1:p.Ser52fs frameshift NM_001354902.2:c.362del NP_001341831.1:p.Ser121fs frameshift NM_001354903.2:c.332del NP_001341832.1:p.Ser111fs frameshift NM_001354904.2:c.257del NP_001341833.1:p.Ser86fs frameshift NM_001354905.2:c.155del NP_001341834.1:p.Ser52fs frameshift NM_001354906.2:c.-704del 5 prime UTR NM_001407446.1:c.362delG NP_001394375.1:p.Ser121Ilefs frameshift NM_001407447.1:c.332delG NP_001394376.1:p.Ser111Ilefs frameshift NM_001407448.1:c.332delG NP_001394377.1:p.Ser111Ilefs frameshift NM_001407449.1:c.332delG NP_001394378.1:p.Ser111Ilefs frameshift NM_001407450.1:c.332delG NP_001394379.1:p.Ser111Ilefs frameshift NM_001407451.1:c.257delG NP_001394380.1:p.Ser86Ilefs frameshift NM_001407452.1:c.332delG NP_001394381.1:p.Ser111Ilefs frameshift NM_001407453.1:c.155delG NP_001394382.1:p.Ser52Ilefs frameshift NM_001407454.1:c.332delG NP_001394383.1:p.Ser111Ilefs frameshift NM_001407455.1:c.332delG NP_001394384.1:p.Ser111Ilefs frameshift NM_001407456.1:c.332delG NP_001394385.1:p.Ser111Ilefs frameshift NM_001407457.1:c.332delG NP_001394386.1:p.Ser111Ilefs frameshift NM_001407458.1:c.332delG NP_001394387.1:p.Ser111Ilefs frameshift NM_001407459.1:c.332delG NP_001394388.1:p.Ser111Ilefs frameshift NM_001407460.1:c.332delG NP_001394389.1:p.Ser111Ilefs frameshift NM_001407467.1:c.332delG NP_001394396.1:p.Ser111Ilefs frameshift NM_001407469.1:c.332delG NP_001394398.1:p.Ser111Ilefs frameshift NM_001407470.1:c.-704delG NM_001407471.1:c.-704delG NM_001407472.1:c.-704delG NR_176365.1:n.502delG NR_176366.1:n.735delG NC_000005.10:g.112767300del NC_000005.9:g.112102997del NG_008481.4:g.79780del LRG_130:g.79780del LRG_130t1:c.332del LRG_130p1:p.Ser111Ilefs LRG_130t2:c.332del LRG_130p2:p.Ser111Ilefs LRG_130t3:c.332del LRG_130p3:p.Ser111Ilefs - Protein change
- S121fs, S86fs, S111fs, S52fs
- Other names
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- Canonical SPDI
- NC_000005.10:112767299:G:
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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 |
14583 | 14717 |
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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Pathogenic (1) |
criteria provided, single submitter
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Sep 25, 2020 | RCV002326468.2 |
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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Pathogenic
(Sep 25, 2020)
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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: SCV002606582.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.332delG pathogenic mutation, located in coding exon 3 of the APC gene, results from a deletion of one nucleotide at nucleotide position 332, causing … (more)
The c.332delG pathogenic mutation, located in coding exon 3 of the APC gene, results from a deletion of one nucleotide at nucleotide position 332, causing a translational frameshift with a predicted alternate stop codon (p.S111Ifs*14). 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)
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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 01, 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.