ClinVar Genomic variation as it relates to human health
NM_000038.6(APC):c.1806_1809del (p.Asn602fs)
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.1806_1809del (p.Asn602fs)
Variation ID: 2583888 Accession: VCV002583888.2
- Type and length
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Deletion, 4 bp
- Location
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Cytogenetic: 5q22.2 5: 112835011-112835014 (GRCh38) [ NCBI UCSC ] 5: 112170708-112170711 (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 3, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000038.6:c.1806_1809del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000029.2:p.Asn602fs frameshift NM_001127510.3:c.1806_1809del NP_001120982.1:p.Asn602fs frameshift NM_001127511.3:c.1752_1755del NP_001120983.2:p.Asn584fs frameshift NM_001354895.2:c.1806_1809del NP_001341824.1:p.Asn602fs frameshift NM_001354896.2:c.1860_1863del NP_001341825.1:p.Asn620fs frameshift NM_001354897.2:c.1836_1839del NP_001341826.1:p.Asn612fs frameshift NM_001354898.2:c.1731_1734del NP_001341827.1:p.Asn577fs frameshift NM_001354899.2:c.1722_1725del NP_001341828.1:p.Asn574fs frameshift NM_001354900.2:c.1683_1686del NP_001341829.1:p.Asn561fs frameshift NM_001354901.2:c.1629_1632del NP_001341830.1:p.Asn543fs frameshift NM_001354902.2:c.1533_1536del NP_001341831.1:p.Asn511fs frameshift NM_001354903.2:c.1503_1506del NP_001341832.1:p.Asn501fs frameshift NM_001354904.2:c.1428_1431del NP_001341833.1:p.Asn476fs frameshift NM_001354905.2:c.1326_1329del NP_001341834.1:p.Asn442fs frameshift NM_001354906.2:c.957_960del NP_001341835.1:p.Asn319fs frameshift NM_001407446.1:c.1890_1893del NP_001394375.1:p.Asn630fs frameshift NM_001407447.1:c.1860_1863del NP_001394376.1:p.Asn620fs frameshift NM_001407448.1:c.1860_1863del NP_001394377.1:p.Asn620fs frameshift NM_001407449.1:c.1860_1863del NP_001394378.1:p.Asn620fs frameshift NM_001407450.1:c.1806_1809del NP_001394379.1:p.Asn602fs frameshift NM_001407451.1:c.1785_1788del NP_001394380.1:p.Asn595fs frameshift NM_001407452.1:c.1776_1779del NP_001394381.1:p.Asn592fs frameshift NM_001407453.1:c.1629_1632del NP_001394382.1:p.Asn543fs frameshift NM_001407454.1:c.1557_1560del NP_001394383.1:p.Asn519fs frameshift NM_001407455.1:c.1557_1560del NP_001394384.1:p.Asn519fs frameshift NM_001407456.1:c.1557_1560del NP_001394385.1:p.Asn519fs frameshift NM_001407457.1:c.1557_1560del NP_001394386.1:p.Asn519fs frameshift NM_001407458.1:c.1503_1506del NP_001394387.1:p.Asn501fs frameshift NM_001407459.1:c.1503_1506del NP_001394388.1:p.Asn501fs frameshift NM_001407460.1:c.1503_1506del NP_001394389.1:p.Asn501fs frameshift NM_001407467.1:c.1419_1422del NP_001394396.1:p.Asn473fs frameshift NM_001407469.1:c.1419_1422del NP_001394398.1:p.Asn473fs frameshift NM_001407470.1:c.957_960del NP_001394399.1:p.Asn319fs frameshift NM_001407471.1:c.654_657del NP_001394400.1:p.Asn218fs frameshift NM_001407472.1:c.654_657del NP_001394401.1:p.Asn218fs frameshift NR_176365.1:n.1641_1644del non-coding transcript variant NR_176366.1:n.2060_2063del non-coding transcript variant NC_000005.10:g.112835013_112835016del NC_000005.9:g.112170710_112170713del NG_008481.4:g.147493_147496del LRG_130:g.147493_147496del LRG_130t1:c.1806_1809del LRG_130p1:p.Asn602Lysfs LRG_130t2:c.1806_1809del LRG_130p2:p.Asn602Lysfs LRG_130t3:c.1806_1809del LRG_130p3:p.Asn602Lysfs - Protein change
- N218fs, N319fs, N442fs, N473fs, N476fs, N501fs, N511fs, N519fs, N543fs, N561fs, N574fs, N577fs, N584fs, N592fs, N595fs, N602fs, N612fs, N620fs, N630fs
- Other names
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- Canonical SPDI
- NC_000005.10:112835010:AATAAA:AA
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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
Help
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 |
14585 | 14719 |
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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May 3, 2023 | RCV003334810.2 |
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
Help
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 03, 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: SCV004044708.2
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 28, 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.