This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
ClinVar Genomic variation as it relates to human health
NM_000038.6(APC):c.7336G>T (p.Glu2446Ter)
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)
Help
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.7336G>T (p.Glu2446Ter)
Variation ID: 2583391 Accession: VCV002583391.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 5q22.2 5: 112842930 (GRCh38) [ NCBI UCSC ] 5: 112178627 (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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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000038.6:c.7336G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000029.2:p.Glu2446Ter nonsense NM_001127510.3:c.7336G>T NP_001120982.1:p.Glu2446Ter nonsense NM_001127511.3:c.7282G>T NP_001120983.2:p.Glu2428Ter nonsense NM_001354895.2:c.7336G>T NP_001341824.1:p.Glu2446Ter nonsense NM_001354896.2:c.7390G>T NP_001341825.1:p.Glu2464Ter nonsense NM_001354897.2:c.7366G>T NP_001341826.1:p.Glu2456Ter nonsense NM_001354898.2:c.7261G>T NP_001341827.1:p.Glu2421Ter nonsense NM_001354899.2:c.7252G>T NP_001341828.1:p.Glu2418Ter nonsense NM_001354900.2:c.7213G>T NP_001341829.1:p.Glu2405Ter nonsense NM_001354901.2:c.7159G>T NP_001341830.1:p.Glu2387Ter nonsense NM_001354902.2:c.7063G>T NP_001341831.1:p.Glu2355Ter nonsense NM_001354903.2:c.7033G>T NP_001341832.1:p.Glu2345Ter nonsense NM_001354904.2:c.6958G>T NP_001341833.1:p.Glu2320Ter nonsense NM_001354905.2:c.6856G>T NP_001341834.1:p.Glu2286Ter nonsense NM_001354906.2:c.6487G>T NP_001341835.1:p.Glu2163Ter nonsense NM_001407446.1:c.7420G>T NP_001394375.1:p.Glu2474Ter nonsense NM_001407447.1:c.7390G>T NP_001394376.1:p.Glu2464Ter nonsense NM_001407448.1:c.7390G>T NP_001394377.1:p.Glu2464Ter nonsense NM_001407449.1:c.7390G>T NP_001394378.1:p.Glu2464Ter nonsense NM_001407450.1:c.7336G>T NP_001394379.1:p.Glu2446Ter nonsense NM_001407451.1:c.7315G>T NP_001394380.1:p.Glu2439Ter nonsense NM_001407452.1:c.7306G>T NP_001394381.1:p.Glu2436Ter nonsense NM_001407453.1:c.7159G>T NP_001394382.1:p.Glu2387Ter nonsense NM_001407454.1:c.7087G>T NP_001394383.1:p.Glu2363Ter nonsense NM_001407455.1:c.7087G>T NP_001394384.1:p.Glu2363Ter nonsense NM_001407456.1:c.7087G>T NP_001394385.1:p.Glu2363Ter nonsense NM_001407457.1:c.7087G>T NP_001394386.1:p.Glu2363Ter nonsense NM_001407458.1:c.7033G>T NP_001394387.1:p.Glu2345Ter nonsense NM_001407459.1:c.7033G>T NP_001394388.1:p.Glu2345Ter nonsense NM_001407460.1:c.7033G>T NP_001394389.1:p.Glu2345Ter nonsense NM_001407467.1:c.6949G>T NP_001394396.1:p.Glu2317Ter nonsense NM_001407469.1:c.6949G>T NP_001394398.1:p.Glu2317Ter nonsense NM_001407470.1:c.6487G>T NP_001394399.1:p.Glu2163Ter nonsense NM_001407471.1:c.6184G>T NP_001394400.1:p.Glu2062Ter nonsense NM_001407472.1:c.6184G>T NP_001394401.1:p.Glu2062Ter nonsense NR_176365.1:n.7171G>T non-coding transcript variant NR_176366.1:n.7590G>T non-coding transcript variant NC_000005.10:g.112842930G>T NC_000005.9:g.112178627G>T NG_008481.4:g.155410G>T LRG_130:g.155410G>T LRG_130t1:c.7336G>T LRG_130p1:p.Glu2446Ter LRG_130t2:c.7336G>T LRG_130p2:p.Glu2446Ter LRG_130t3:c.7336G>T LRG_130p3:p.Glu2446Ter - Protein change
- E2062*, E2163*, E2286*, E2317*, E2320*, E2345*, E2355*, E2363*, E2387*, E2405*, E2418*, E2421*, E2428*, E2436*, E2439*, E2446*, E2456*, E2464*, E2474*
- Other names
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- Canonical SPDI
- NC_000005.10:112842929:G:T
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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 |
14962 | 15100 | |
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 16, 2023 | RCV004566122.1 |
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
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 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: SCV004044570.2
First in ClinVar: Oct 21, 2023 Last updated: Oct 28, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a termination codon and is 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 termination codon and is 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 Oct 27, 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.