This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
ClinVar Genomic variation as it relates to human health
NM_000038.6(APC):c.1907dup (p.Gly637fs)
Germline
Classification
Help
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.
(1)
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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.
Pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000038.6(APC):c.1907dup (p.Gly637fs)
Variation ID: 2584001 Accession: VCV002584001.1
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 5q22.2 5: 112835112-112835113 (GRCh38) [ NCBI UCSC ] 5: 112170809-112170810 (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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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000038.6:c.1907dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000029.2:p.Gly637fs frameshift NM_001127510.3:c.1907dup NP_001120982.1:p.Gly637fs frameshift NM_001127511.3:c.1853dup NP_001120983.2:p.Gly619fs frameshift NM_001354895.2:c.1907dup NP_001341824.1:p.Gly637fs frameshift NM_001354896.2:c.1961dup NP_001341825.1:p.Gly655fs frameshift NM_001354897.2:c.1937dup NP_001341826.1:p.Gly647fs frameshift NM_001354898.2:c.1832dup NP_001341827.1:p.Gly612fs frameshift NM_001354899.2:c.1823dup NP_001341828.1:p.Gly609fs frameshift NM_001354900.2:c.1784dup NP_001341829.1:p.Gly596fs frameshift NM_001354901.2:c.1730dup NP_001341830.1:p.Gly578fs frameshift NM_001354902.2:c.1634dup NP_001341831.1:p.Gly546fs frameshift NM_001354903.2:c.1604dup NP_001341832.1:p.Gly536fs frameshift NM_001354904.2:c.1529dup NP_001341833.1:p.Gly511fs frameshift NM_001354905.2:c.1427dup NP_001341834.1:p.Gly477fs frameshift NM_001354906.2:c.1058dup NP_001341835.1:p.Gly354fs frameshift NM_001407446.1:c.1991dup NP_001394375.1:p.Gly665fs frameshift NM_001407447.1:c.1961dup NP_001394376.1:p.Gly655fs frameshift NM_001407448.1:c.1961dup NP_001394377.1:p.Gly655fs frameshift NM_001407449.1:c.1961dup NP_001394378.1:p.Gly655fs frameshift NM_001407450.1:c.1907dup NP_001394379.1:p.Gly637fs frameshift NM_001407451.1:c.1886dup NP_001394380.1:p.Gly630fs frameshift NM_001407452.1:c.1877dup NP_001394381.1:p.Gly627fs frameshift NM_001407453.1:c.1730dup NP_001394382.1:p.Gly578fs frameshift NM_001407454.1:c.1658dup NP_001394383.1:p.Gly554fs frameshift NM_001407455.1:c.1658dup NP_001394384.1:p.Gly554fs frameshift NM_001407456.1:c.1658dup NP_001394385.1:p.Gly554fs frameshift NM_001407457.1:c.1658dup NP_001394386.1:p.Gly554fs frameshift NM_001407458.1:c.1604dup NP_001394387.1:p.Gly536fs frameshift NM_001407459.1:c.1604dup NP_001394388.1:p.Gly536fs frameshift NM_001407460.1:c.1604dup NP_001394389.1:p.Gly536fs frameshift NM_001407467.1:c.1520dup NP_001394396.1:p.Gly508fs frameshift NM_001407469.1:c.1520dup NP_001394398.1:p.Gly508fs frameshift NM_001407470.1:c.1058dup NP_001394399.1:p.Gly354fs frameshift NM_001407471.1:c.755dup NP_001394400.1:p.Gly253fs frameshift NM_001407472.1:c.755dup NP_001394401.1:p.Gly253fs frameshift NR_176365.1:n.1742dup non-coding transcript variant NR_176366.1:n.2161dup non-coding transcript variant NC_000005.10:g.112835114dup NC_000005.9:g.112170811dup NG_008481.4:g.147594dup LRG_130:g.147594dup LRG_130t1:c.1907dup LRG_130p1:p.Gly637Trpfs LRG_130t2:c.1907dup LRG_130p2:p.Gly637Trpfs LRG_130t3:c.1907dup LRG_130p3:p.Gly637Trpfs - Protein change
- G253fs, G354fs, G477fs, G508fs, G511fs, G536fs, G546fs, G554fs, G578fs, G596fs, G609fs, G612fs, G619fs, G627fs, G630fs, G637fs, G647fs, G655fs, G665fs
- Other names
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- Canonical SPDI
- NC_000005.10:112835112:GG:GGG
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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 | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
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 |
14965 | 15103 | |
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
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May 3, 2023 | RCV004564915.1 |
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
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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
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: SCV004045608.2
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.
|
Comment:
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. |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Citations for germline classification of this variant
Help| There 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 Nov 03, 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.