ClinVar Genomic variation as it relates to human health
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
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.
Uncertain significance(3); Benign(7); Likely benign(5)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000038.6(APC):c.607C>G (p.Gln203Glu)
Variation ID: 41509 Accession: VCV000041509.49
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 5q22.2 5: 112780865 (GRCh38) [ NCBI UCSC ] 5: 112116562 (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 Apr 12, 2013 May 12, 2024 Mar 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000038.6:c.607C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000029.2:p.Gln203Glu missense NM_001127510.3:c.607C>G NP_001120982.1:p.Gln203Glu missense NM_001127511.3:c.637C>G NP_001120983.2:p.Gln213Glu missense NM_001354895.2:c.607C>G NP_001341824.1:p.Gln203Glu missense NM_001354896.2:c.607C>G NP_001341825.1:p.Gln203Glu missense NM_001354897.2:c.637C>G NP_001341826.1:p.Gln213Glu missense NM_001354898.2:c.532C>G NP_001341827.1:p.Gln178Glu missense NM_001354899.2:c.607C>G NP_001341828.1:p.Gln203Glu missense NM_001354900.2:c.430C>G NP_001341829.1:p.Gln144Glu missense NM_001354901.2:c.430C>G NP_001341830.1:p.Gln144Glu missense NM_001354902.2:c.637C>G NP_001341831.1:p.Gln213Glu missense NM_001354903.2:c.607C>G NP_001341832.1:p.Gln203Glu missense NM_001354904.2:c.532C>G NP_001341833.1:p.Gln178Glu missense NM_001354905.2:c.430C>G NP_001341834.1:p.Gln144Glu missense NM_001354906.2:c.-429C>G 5 prime UTR NC_000005.10:g.112780865C>G NC_000005.9:g.112116562C>G NG_008481.4:g.93345C>G LRG_130:g.93345C>G LRG_130t1:c.607C>G - Protein change
- Q203E, Q213E, Q144E, Q178E
- Other names
- p.Q203E:CAA>GAA
- CCDS4107.1:c.607C>G
- Canonical SPDI
- NC_000005.10:112780864:C: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
Help
The frequency of the allele represented by this VCV record.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Trans-Omics for Precision Medicine (TOPMed) 0.00036
Exome Aggregation Consortium (ExAC) 0.00052
The Genome Aggregation Database (gnomAD), exomes 0.00060
The Genome Aggregation Database (gnomAD) 0.00034
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
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 |
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
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. |
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Benign/Likely benign (6) |
criteria provided, multiple submitters, no conflicts
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Mar 1, 2024 | RCV000034394.29 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Jan 24, 2023 | RCV000115109.23 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Aug 15, 2023 | RCV000120051.25 | |
not provided (1) |
no classification provided
|
- | RCV000709878.8 | |
Likely benign (1) |
criteria provided, single submitter
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May 29, 2018 | RCV000757929.10 | |
Likely benign (2) |
criteria provided, multiple submitters, no conflicts
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May 28, 2019 | RCV000987552.14 | |
Uncertain significance (1) |
criteria provided, single submitter
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May 29, 2019 | RCV001156934.11 | |
Benign (1) |
criteria provided, single submitter
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Feb 1, 2024 | RCV003534317.1 |
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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Likely benign
(May 29, 2018)
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criteria provided, single submitter
Method: research
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Familial multiple polyposis syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV000886450.1
First in ClinVar: Feb 23, 2019 Last updated: Feb 23, 2019 |
Comment:
The APC variant designated as NM_000038.5:c.607C>G (p.Gln203Glu) is classified as likely benign. This variant is found in approximately 1 out of 500 individuals of European … (more)
The APC variant designated as NM_000038.5:c.607C>G (p.Gln203Glu) is classified as likely benign. This variant is found in approximately 1 out of 500 individuals of European ancestry (exac.broadinstitute.org), which is a higher frequency than expected of a pathogenic APC variant (Kobayashi et al, 2017, PMID:28166811). It is listed in the ClinVar database (Variation ID: 41509) and has been classified as benign or likely benign by 7 clinical laboratories. In one obseved family, this variant was identified in two members who have been documented to have fewer than 5 colon polyps on colonoscopy. Bayesian analysis integrating all of this data (Tavtigian et al, 2018, PMID: 29300386) gives about 1% probability of pathogenicity, which is consistent with a classification of likely benign. This variant is not predicted to alter APC function or modify cancer risk. A modest (less than 2-fold) increase in risk of cancer or colon polyps due to this variant cannot be excluded. This analysis was performed in conjunction with the family studies project as part of the University of Washington Find My Variant Study. (less)
Family history: yes
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Benign
(Jul 27, 2020)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002536339.1
First in ClinVar: Mar 25, 2020 Last updated: Mar 25, 2020 |
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Uncertain significance
(Jan 24, 2023)
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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
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV004014936.1
First in ClinVar: Jul 22, 2023 Last updated: Jul 22, 2023 |
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Likely benign
(Dec 14, 2016)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000538294.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is present in 1.2% of Ashkenazi Jewish alleles in gnomAD (121/10150). Frequency too high for disease. It is classified in ClinVar with 1 star as Likely benign/benign by Invitae and Ambry and as VUS by GeneDx and Biesecker lab. (less)
Method: Genome/Exome Filtration
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Benign
(Jan 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000149018.14
First in ClinVar: May 17, 2014 Last updated: Apr 09, 2018 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
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Likely benign
(Sep 15, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000805445.1
First in ClinVar: May 30, 2018 Last updated: May 30, 2018 |
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Likely benign
(May 28, 2019)
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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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Mendelics
Accession: SCV001136875.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
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Uncertain significance
(May 29, 2019)
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criteria provided, single submitter
Method: clinical testing
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APC-Associated Polyposis Disorders
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV001318474.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
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Benign
(Jul 14, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694089.3
First in ClinVar: Apr 12, 2013 Last updated: Sep 17, 2022 |
Comment:
Variant summary: APC c.607C>G (p.Gln203Glu) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging … (more)
Variant summary: APC c.607C>G (p.Gln203Glu) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00062 in 251556 control chromosomes (gnomAD). The observed variant frequency is approximately 9 fold of the estimated maximal expected allele frequency for a pathogenic variant in APC causing Familial Adenomatous Polyposis phenotype (7.1e-05), strongly suggesting that the variant is benign. c.607C>G has been reported in the literature in individuals affected with adrenocortical carcinoma and ependymoma (example, Zhang_2015), endometrial cancer (example, Kogan_2018), and male breast cancer (example, Rizzolo_2019). These reports however, do not provide unequivocal conclusions about association of the variant with Familial Adenomatous Polyposis. At-least one co-occurrence with another pathogenic variant has been observed at our laboratory (BRCA1 c.68_69delAG, p.Glu23ValfsX17) providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Multiple other ClinVar submitters (evaluation after 2014) cite the variant with a predominant consensus as as likely benign/benign (n=11) or uncertain significance (n=1). Based on the evidence outlined above, the variant was classified as benign. (less)
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Likely benign
(Sep 19, 2016)
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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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Color Diagnostics, LLC DBA Color Health
Accession: SCV000681776.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
|
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Benign
(Feb 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 1
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000166046.13
First in ClinVar: Jun 15, 2014 Last updated: Feb 14, 2024 |
|
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Benign
(Aug 19, 2015)
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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: SCV000186254.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
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Uncertain significance
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550566.4
First in ClinVar: Jul 27, 2022 Last updated: Aug 18, 2023 |
|
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Benign
(Jan 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888754.3
First in ClinVar: May 30, 2018 Last updated: Jan 06, 2024 |
|
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Benign
(Mar 01, 2024)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002563846.11
First in ClinVar: Aug 23, 2022 Last updated: May 12, 2024 |
Comment:
APC: BS1, BS2
Number of individuals with the variant: 14
|
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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Familial adenomatous polyposis 1
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001551222.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The APC p.Gln203Glu variant was identified in the literature in 5 of 2506 control chromosomes (frequency: 0.002) from individuals with no personal or family history … (more)
The APC p.Gln203Glu variant was identified in the literature in 5 of 2506 control chromosomes (frequency: 0.002) from individuals with no personal or family history of cancer (Johnston 2012, Bodian 2014). The variant was also identified in dbSNP (ID: rs141576417) as "With other allele", ClinVar (classified as benign by Invitae, Ambry Genetics and GeneDx; as likely benign by Prevention Genetics, Color, and three other submitters; and as uncertain significance by one submitter), UMD (4x as "unclassified variant"), and LOVD 3.0 (1x). The variant was identified in control databases in 155 of 276178 chromosomes at a frequency of 0.0006 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Ashkenazi Jewish in 129 of 10142 chromosomes (freq: 0.01), Other in 5 of 6448 chromosomes (freq: 0.0008), European in 18 of 126044 chromosomes (freq: 0.0001), and African in 3 of 24000 chromosomes (freq: 0.0001); it was not observed in the East Asian, Finnish, Latino, or South Asian populations. The p.Gln203 residue is conserved across mammals and other organisms and 4 of 5 computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. (less)
Number of individuals with the variant: 1
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002035996.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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variant of unknown significance
(Jul 13, 2012)
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no assertion criteria provided
Method: research
|
not provided
Affected status: no
Allele origin:
germline
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
Study: ClinSeq
Accession: SCV000043106.1 First in ClinVar: Apr 12, 2013 Last updated: Apr 12, 2013 |
Comment:
Converted during submission to Uncertain significance.
Number of individuals with the variant: 4
Comment on evidence:
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for … (more)
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for details. (less)
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Likely benign
(Sep 28, 2017)
|
no assertion criteria provided
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
True Health Diagnostics
Accession: SCV000693485.1
First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018 |
|
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Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002035201.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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not provided
(Sep 19, 2013)
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no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
|
ITMI
Accession: SCV000084187.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
|
Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
|
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not provided
(-)
|
no classification provided
Method: phenotyping only
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Familial adenomatous polyposis 1
Desmoid disease, hereditary
Affected status: unknown
Allele origin:
unknown
|
GenomeConnect, ClinGen
Accession: SCV000840215.1
First in ClinVar: Oct 14, 2018 Last updated: Oct 14, 2018 |
Comment:
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical … (more)
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Oral-pharyngeal dysphagia (present) , Hypermetropia (present) , Myopia (present) , Abnormality of the lens (present) , Abnormality of movement (present) , Abnormality of the musculature … (more)
Oral-pharyngeal dysphagia (present) , Hypermetropia (present) , Myopia (present) , Abnormality of the lens (present) , Abnormality of movement (present) , Abnormality of the musculature of the pelvis (present) , Abnormality of muscle physiology (present) , Hypercholesterolemia (present) , Melanoma (present) , Breast carcinoma (present) (less)
Indication for testing: Diagnostic
Age: 60-69 years
Sex: female
Testing laboratory: Baylor Genetics
Date variant was reported to submitter: 2015-07-06
Testing laboratory interpretation: Uncertain significance
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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
HelpTitle | Author | Journal | Year | Link |
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Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy. | Rizzolo P | International journal of cancer | 2019 | PMID: 30613976 |
Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance. | Tsai GJ | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30374176 |
Impact of lower uterine segment involvement in type II endometrial cancer and the unique mutational profile of serous tumors. | Kogan L | Gynecologic oncology reports | 2018 | PMID: 29915797 |
Actionable Genes, Core Databases, and Locus-Specific Databases. | Pinard A | Human mutation | 2016 | PMID: 27600092 |
Germline Mutations in Predisposition Genes in Pediatric Cancer. | Zhang J | The New England journal of medicine | 2015 | PMID: 26580448 |
Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology. | Cheng DT | The Journal of molecular diagnostics : JMD | 2015 | PMID: 25801821 |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL | PloS one | 2014 | PMID: 24728327 |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. | Johnston JJ | American journal of human genetics | 2012 | PMID: 22703879 |
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. | Kanter-Smoler G | BMC medicine | 2008 | PMID: 18433509 |
Text-mined citations for rs141576417 ...
HelpRecord last updated Jun 02, 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.