ClinVar Genomic variation as it relates to human health
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
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_000051.4(ATM):c.1564_1565del (p.Glu522fs)
Variation ID: 127340 Accession: VCV000127340.82
- Type and length
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Microsatellite, 2 bp
- Location
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Cytogenetic: 11q22.3 11: 108251026-108251027 (GRCh38) [ NCBI UCSC ] 11: 108121753-108121754 (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 Mar 29, 2015 Oct 8, 2024 Jul 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000051.4:c.1564_1565del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000042.3:p.Glu522fs frameshift NM_000051.4:c.1564_1565delGA MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_000051.3:c.1561_1562delAG frameshift NM_000051.3:c.1564_1565delGA NM_001351834.2:c.1564_1565del NP_001338763.1:p.Glu522fs frameshift NC_000011.10:g.108251027GA[1] NC_000011.9:g.108121754GA[1] NG_009830.1:g.33196GA[1] LRG_135:g.33196GA[1] - Protein change
- E522fs
- Other names
- -
- Canonical SPDI
- NC_000011.10:108251025:AGAGA:AGA
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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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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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ATM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10833 | 17429 |
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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Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
|
Jan 8, 2024 | RCV000115144.25 | |
Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Jan 21, 2024 | RCV000169147.33 | |
Pathogenic (13) |
criteria provided, multiple submitters, no conflicts
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Jul 31, 2024 | RCV000211964.42 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Mar 21, 2024 | RCV000709705.15 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 7, 2020 | RCV001263302.5 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV001357511.6 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 15, 2022 | RCV002051809.6 | |
Pathogenic (1) |
criteria provided, single submitter
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May 12, 2022 | RCV002477274.4 | |
not provided (1) |
no classification provided
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- | RCV002508921.5 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 28, 2022 | RCV003492453.1 | |
ATM-related disorder
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Pathogenic (1) |
no assertion criteria provided
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Jan 22, 2024 | RCV004549540.3 |
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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
(Aug 29, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000610563.1
First in ClinVar: Oct 09, 2016 Last updated: Oct 09, 2016 |
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Pathogenic
(Jan 30, 2017)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000839878.1
First in ClinVar: Oct 14, 2018 Last updated: Oct 14, 2018 |
Comment:
This c.1564_1565del (p.Glu522Ilefs*43) has previously been reported a patient with ataxia telangiectasia [p.R521fs in PMID 8789452]. It has also been reported in patients with gastric … (more)
This c.1564_1565del (p.Glu522Ilefs*43) has previously been reported a patient with ataxia telangiectasia [p.R521fs in PMID 8789452]. It has also been reported in patients with gastric cancer and suspected lynch syndrome [c.1561_1562del, p.R521fs in PMID 26506520]. This c.1564_1565del (p.Glu522Ilefs*43) variant been observed in 6 heterozygous individuals in the ExAC population database (http://exac.broadinstitute.org/variant/11-108121752-CAG-C). It is thus interpreted as a likely pathogenic variant. (less)
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Pathogenic
(Jul 09, 2018)
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criteria provided, single submitter
Method: clinical testing
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Ataxia-telangiectasia syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918549.1
First in ClinVar: Jun 02, 2019 Last updated: Jun 02, 2019 |
Comment:
Variant summary: ATM c.1564_1565delGA (p.Glu522IlefsX43) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: ATM c.1564_1565delGA (p.Glu522IlefsX43) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 5.3e-05 in 246034 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in ATM causing Ataxia-Telangiectasia (5.3e-05 vs 0.004), allowing no conclusion about variant significance. The variant, c.1564_1565delGA, has been reported in the literature in multiple individuals affected with Ataxia-Telangiectasia (Demuth_2011, Stankovic_1998, Sandoval_199). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six ClinVar submission from clinical diagnostic laboratories (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Feb 21, 2019)
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criteria provided, single submitter
Method: clinical testing
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Ataxia-telangiectasia syndrome
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
Accession: SCV001150019.1
First in ClinVar: Feb 03, 2020 Last updated: Feb 03, 2020 |
Sex: female
Tissue: blood
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Pathogenic
(Jan 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: yes
Allele origin:
germline
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GeneKor MSA
Accession: SCV000821698.2
First in ClinVar: Oct 10, 2018 Last updated: Apr 22, 2020 |
Comment:
This variation is a deletion of 2 nucleotides in exon 10 of the ATM mRNA (c.1564_1565delGA), causing a frameshift after codon 522 and the creation … (more)
This variation is a deletion of 2 nucleotides in exon 10 of the ATM mRNA (c.1564_1565delGA), causing a frameshift after codon 522 and the creation of a premature translational stop signal 43 amino acid residues later -p.(Glu522Ilefs*43). This is expected to result in an absent or disrupted protein product. Truncating variants in ATM are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with ataxia-telangiectasia and in breast cancer patients (PMID: 10817650, PMID: 12497634, PMID: 27083775). The mutation database ClinVar contains multiple entries for this variant (Variation ID: 127340). (less)
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Pathogenic
(Nov 18, 2020)
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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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Athena Diagnostics
Accession: SCV001143097.2
First in ClinVar: Jan 19, 2020 Last updated: Sep 19, 2021 |
Comment:
This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with … (more)
This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. (less)
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Pathogenic
(Jun 17, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: yes
Allele origin:
germline
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Spanish ATM Cancer Susceptibility Variant Interpretation Working Group
Accession: SCV001911474.1
First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
Comment:
The c.1564_1565del p.(Glu522Ilefs*43) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein, due to nonsense mediated … (more)
The c.1564_1565del p.(Glu522Ilefs*43) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein, due to nonsense mediated decay (NMD) (PVS1). It has an allele frequency of 0.00004232 (0.004%, 10/236,314 alleles) in the gnomAD v2.1.1 non-cancer dataset, with a maximal frequency of 0.000078 (0.008%, 8/102,512 alleles) in the Non-Finnish European subpopulation (no population frequency criterion met; http://gnomad.broadinstitute.org). This variant has been reported in at least four ataxia-telangiectasia probands in trans with pathogenic variants (PMID: 15880721, 16266405) and in three homozygous probands (PMID: 12497634), which awards it with 4 points as per ClinGen SVI Recommendation for in trans Criterion (PM3_VeryStrong). It has also been observed in at least 10 other ataxia-telangiectasia probands (PMID: 9463314, 21965147, 30772474). In summary, this variant meets criteria to be classified as pathogenic. Adapted ACMG/AMP rules applied as defined by the Spanish ATM working group: PVS1 + PM3_VeryStrong (PMID: 33280026). (less)
Observation 1:
Clinical Features:
Lymphoma (present) , Colorectal cancer (present) , Adenomas, multiple colorectal (present)
Indication for testing: Hereditary nonpolyposis colon cancer
Ethnicity/Population group: European caucasoid
Testing laboratory: Fundación Pública Galega Medicina Xenómica (FPGMX), SERGAS, 15706 Santiago de Compostela, Spain
Observation 2:
Clinical Features:
Hodgkin lymphoma (present) , Oncocytoma of kidney (present) , Colorectal polyposis (present) , Colorectal cancer (present) , Breast carcinoma (present)
Indication for testing: Hereditary cancer
Ethnicity/Population group: European caucasoid
Testing laboratory: Molecular Oncology Laboratory, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain
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Pathogenic
(Sep 10, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002532727.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The ATM c.1564_1565delGA (p.E522IfsX43) variant has been reported in several individuals with cancer including breast cancer, gastric cancer, lung cancer, pancreatic cancer, medulloblastoma, Lynch Syndrome-associated … (more)
The ATM c.1564_1565delGA (p.E522IfsX43) variant has been reported in several individuals with cancer including breast cancer, gastric cancer, lung cancer, pancreatic cancer, medulloblastoma, Lynch Syndrome-associated cancer and/or colorectal polyps (PMID: 27083775, 27988859, 29785153, 26506520, 25980754, 2884336, 28767289, 29753700). Additionally, it was also described in ataxia-telangiectasia patients in either homozygous or compound heterozygous state (PMID: 30772474, 10817650). This variant causes a frameshift at amino acid 522 that results in premature termination 43 amino acids downstream. At this location, this is predicted to cause nonsense-mediated decay and result in an absent protein (loss of function). Loss of function variants in ATM are known to be pathogenic (PMID: 31050087). This variant was observed in 12/113526 chromosomes of the Non-Finnish European subpopulation, with no homozygotes, in the large and broad cohorts of the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). The variant has been reported in ClinVar (Variation ID 127340). Based on the current evidence available, this variant is interpreted as pathogenic. (less)
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Pathogenic
(Mar 30, 2022)
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criteria provided, single submitter
Method: clinical testing
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Ataxia-telangiectasia syndrome
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002556657.2
First in ClinVar: Aug 08, 2022 Last updated: Dec 17, 2022 |
Comment:
The ATM c.1564_1565del variant is classified as a PATHOGENIC variant (PVS1, PM2, PS4_supporting) The variant is a 2-base pair deletion in exon 10/63 of the … (more)
The ATM c.1564_1565del variant is classified as a PATHOGENIC variant (PVS1, PM2, PS4_supporting) The variant is a 2-base pair deletion in exon 10/63 of the ATM gene which results in a frameshift starting at codon Glutamic acid 522, changes this amino acid to an Isoleucine, and creating a premature STOP codon 43 amino acids downstream (denoted p.Glu522Ilefs*43) (PVS1). The variant has been reported in dbSNP (rs1374409941) but is rare in the disease databases (gnomAD: 8/152158, 0 homozygote) (PM2). The variant has been reported in both ClinVar (ID: #127340) and HGMD (accession: CD961794) as a disease causing variant (PS4_supporting). (less)
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Pathogenic
(Jun 03, 2014)
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criteria provided, single submitter
Method: literature only
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Ataxia-telangiectasia syndrome
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000220368.2
First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022 |
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Pathogenic
(Dec 09, 2022)
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criteria provided, single submitter
Method: research
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Familial cancer of breast
Affected status: no
Allele origin:
germline
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001368645.4
First in ClinVar: Jul 04, 2020 Last updated: Feb 25, 2023 |
Comment:
PVS1, PM3_VSTR
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Pathogenic
(Mar 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000149053.16
First in ClinVar: May 14, 2014 Last updated: Mar 04, 2023 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in the heterozygous state in individuals with breast, pancreatic, and other cancers (Huang 2015, Hansford 2015, Mansfield 2016, Brand 2018, Dudley 2018, Waszak 2018, West 2018, Young 2018, Long 2019); Not observed at significant frequency in large population cohorts (gnomAD); Also known as 1561_1562delAG, 1563_1564delAG, and 1562delAG; This variant is associated with the following publications: (PMID: 31447099, 29625052, 26689913, 28390840, 27533158, 29360161, 29753700, 28152038, 28843361, 31285527, 8789452, 21965147, 9792409, 23566627, 25980754, 22213089, 26506520, 11756177, 18634022, 26681312, 27083775, 28126470, 26182300, 27988859, 27479817, 28779002, 29785153, 28767289, 25186627, 30549301, 29445900, 30322717, 30612635, 31407689, 30772474, 30067863, 29945567, 29522266, 23242139, 31589614, 33436325, 32885271, 32427313, 32441320, 33098801, 33280026) (less)
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Pathogenic
(Apr 12, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
paternal
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV004026334.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
Comment:
PVS1, PS4, PM2_SUP, PM3
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Pathogenic
(May 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
(Autosomal unknown)
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001428899.2
First in ClinVar: Aug 16, 2020 Last updated: Aug 23, 2023 |
Clinical Features:
Breast carcinoma (present)
Sex: female
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Pathogenic
(Nov 18, 2020)
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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: SCV004219985.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Additionally, the … (more)
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Additionally, the variant was found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity. (less)
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Pathogenic
(Jun 11, 2019)
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criteria provided, single submitter
Method: clinical testing
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Ataxia-telangiectasia syndrome
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002020066.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Sep 28, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV004240325.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 21, 2024)
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criteria provided, single submitter
Method: clinical testing
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Ataxia-telangiectasia syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000219160.14
First in ClinVar: Mar 29, 2015 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Glu522Ilefs*43) in the ATM gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Glu522Ilefs*43) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant is present in population databases (rs751357509, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with breast cancer and ataxia-telangiectasia (PMID: 9000145, 9463314, 10330348, 10817650, 12497634, 21965147, 27083775). This variant is also known as 1561delAG, 521ΔAG, 1563_1564delAG, 1563delAG, c.1564_1565delAG and c.1561_1562delAG. ClinVar contains an entry for this variant (Variation ID: 127340). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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Tip-toe gait
Affected status: yes
Allele origin:
germline
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Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino
Accession: SCV002319223.2
First in ClinVar: Apr 02, 2022 Last updated: Jun 17, 2024 |
Comment:
Gait disorder
Clinical Features:
limited range of motion of the upper ankle (present)
Age: 0-9 years
Sex: male
Method: Gene panel analysis
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Pathogenic
(Mar 21, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004208319.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Pathogenic
(Jul 31, 2024)
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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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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004027153.2
First in ClinVar: Aug 19, 2023 Last updated: Aug 04, 2024 |
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Pathogenic
(May 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001249798.25
First in ClinVar: May 12, 2020 Last updated: Oct 08, 2024 |
Comment:
ATM: PM3:Very Strong, PVS1, PM2:Supporting
Number of individuals with the variant: 8
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Pathogenic
(Apr 07, 2020)
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criteria provided, single submitter
Method: clinical testing
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Seizure
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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New York Genome Center
Study: CSER-NYCKidSeq
Accession: SCV001441343.1 First in ClinVar: Nov 06, 2020 Last updated: Nov 06, 2020 |
Secondary finding: no
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Pathogenic
(Apr 02, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499655.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
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Pathogenic
(May 23, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002580051.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PVS1, PM3_STR, PS4_MOD, PM2_SUP
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Number of individuals with the variant: 1
Sex: male
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Pathogenic
(May 12, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Ataxia-telangiectasia syndrome
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002792624.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Jan 08, 2024)
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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: SCV000681982.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 2 nucleotides in exon 10 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 2 nucleotides in exon 10 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast cancer (PMID: 16652348, 17393301, 29785153), pancreatic cancer (PMID: 29945567, 30067863), and gastric cancer (PMID: 31514334). This variant has also been reported in the homozygous state and in the compound heterozygous state with an additional ATM pathogenic variant in individuals affected with ataxia-telangiectasia (PMID: 10817650, 22213089, 30772474). This variant has been identified in 14/250850 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 17, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004931069.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
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Pathogenic
(Oct 22, 2021)
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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: SCV000185620.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.1564_1565delGA pathogenic mutation, located in coding exon 9 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 1564 to … (more)
The c.1564_1565delGA pathogenic mutation, located in coding exon 9 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 1564 to 1565, causing a translational frameshift with a predicted alternate stop codon (p.E522Ifs*43). This alteration is a commonly recurring mutation in Ataxia-Telangiectasia cohorts and has been observed in both the homozygous and compound heterozygous states (Byrd PJ et al. Hum. Mol. Genet. 1996 Jan;5:145-9; McConville CM et al. Am. J. Hum. Genet. 1996 Aug;59:320-30; Broeks A et al. Hum. Mutat. 1998;12:330-7; Stankovic T et al. Am. J. Hum. Genet. 1998 Feb;62:334-45; Sandoval N et al. Hum. Mol. Genet. 1999 Jan;8:69-79; Teraoka SN et al. Am. J. Hum. Genet. 1999 Jun;64:1617-31; Li A and Swift M. Am. J. Med. Genet. 2000 May;92:170-7; Verhagen MM et al. Neuropediatrics. 2007 Jun;38:117-21; Verhagen MM et al. Neurology. 2009 Aug;73:430-7; Reiman A et al. Br. J. Cancer. 2011 Aug;105:586-91; Demuth I et al. Neurogenetics. 2011 Nov;12:273-82; Verhagen MM et al. Hum. Mutat. 2012 Mar;33:561-71; van Os NJH et al. Clin. Immunol. 2017 05;178:45-55). This mutation has also been observed in patients with breast cancer (Hansford S et al. JAMA Oncol. 2015 Apr;1:23-32; Seifert BA et al. Clin. Cancer Res. 2016 Aug;22:4087-4094; Decker B et al. J. Med. Genet. 2017 Nov;54:732-741; Hauke J et al. Cancer Med. 2018 Apr;7:1349-1358). Additionally, this mutation has been identified in multiple cohorts of patients with pancreatic cancer (Shindo K et al. J. Clin. Oncol. 2017 Oct;35:3382-3390; Young EL et al. BMC Cancer. 2018 Jun;18:697; Dudley B et al. Cancer. 2018 Apr;124:1691-1700; Brand R et al. Cancer. 2018 Aug;[Epub ahead of print]). Of note, this alteration is also designated as 1560CAG>C, 1561delAG, 1561_1562delAG, 1563delAG, and 1563_1564delAG in published literature. In addition to the clinical data presented in the literature, 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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Pathogenic
(Mar 04, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005198479.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Ataxia-telangiectasia
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV001461007.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
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: SCV001553000.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The ATM p.Glu522Ilefs*43 variant was identified in 24 of 22060 proband chromosomes (frequency: 0.002) from individuals or families with Ataxia-Telangiectasia, breast cancer, melanoma, or pancreatic … (more)
The ATM p.Glu522Ilefs*43 variant was identified in 24 of 22060 proband chromosomes (frequency: 0.002) from individuals or families with Ataxia-Telangiectasia, breast cancer, melanoma, or pancreatic cancer (Campbell 2003, Demuth 2011, Li 2000, Seifert 2016, Stankovic 1998, Susswein 2015, Teraoka 1999, Verhagen 2011, Mitu 2005). The variant was also identified in dbSNP (ID: rs587779817; Alias rs751357509) as "With Pathogenic allele", ClinVar (classified as pathogenic by GeneDx, Ambry Genetics, Invitae, Counsyl, Color Genomics and Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics), Cosmic (2x found in Haematopoietic and lymphoid tissue or Upper aerodigestive tract), and LOVD 3.0 (40x as pathogenic). The variant was not identified in the COGR database. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.1564_1565del variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 522 and leads to a premature stop codon at position 564. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the ATM gene are an established mechanism of disease in ATM-associated cancers and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808811.1 First in ClinVar: Aug 25, 2021 Last updated: Aug 25, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001969119.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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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: SCV002036395.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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Pathogenic
(Jan 22, 2024)
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no assertion criteria provided
Method: clinical testing
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ATM-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004732468.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
The ATM c.1564_1565delGA variant is predicted to result in a frameshift and premature protein termination (p.Glu522Ilefs*43). This variant has previously been reported in patients with … (more)
The ATM c.1564_1565delGA variant is predicted to result in a frameshift and premature protein termination (p.Glu522Ilefs*43). This variant has previously been reported in patients with ataxia telangiectasia (Byrd et al. 1996. PubMed ID: 8789452), as well as in individuals with a personal or family history of breast, pancreatic, gastric, and colorectal cancers (Decker et al. 2017. PubMed ID: 28779002; Hansford et al. 2015. PubMed ID: 26182300; Huang et al. 2015. PubMed ID: 26506520; Shindo et al. 2017. PubMed ID: 28767289; Tung et al. 2014. PubMed ID: 25186627; Yurgelun et al. 2015. PubMed ID: 25980754). This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/127340/). Frameshift variants in ATM are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Oct 27, 2016)
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no assertion criteria provided
Method: literature only
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Ataxia-telangiectasia syndrome
Affected status: yes
Allele origin:
germline
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GeneReviews
Accession: SCV000328297.1
First in ClinVar: Nov 06, 2016 Last updated: Nov 06, 2016 |
Ethnicity/Population group: Amish
Geographic origin: United Kingdom;Poland
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001741364.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001905931.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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not provided
(-)
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no classification provided
Method: phenotyping only
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Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
unknown
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GenomeConnect, ClinGen
Accession: SCV002818374.2
First in ClinVar: Jan 07, 2023 Last updated: Jun 17, 2024 |
Comment:
Variant classified as Pathogenic and reported on 12-28-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided … (more)
Variant classified as Pathogenic and reported on 12-28-2021 by Lab or GTR ID 26957. 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:
Rheumatoid arthritis (present) , Facial palsy (present) , Ulcerative colitis (present) , Hyperkinetic movements (present) , Muscle weakness (present) , Increased muscle fatiguability (present) , … (more)
Rheumatoid arthritis (present) , Facial palsy (present) , Ulcerative colitis (present) , Hyperkinetic movements (present) , Muscle weakness (present) , Increased muscle fatiguability (present) , Migraine (present) , Elevated circulating creatine kinase concentration (present) (less)
Indication for testing: Diagnostic
Age: 50-59 years
Sex: female
Method: Exome Sequencing
Testing laboratory: GeneDx
Date variant was reported to submitter: 2021-12-28
Testing laboratory interpretation: Pathogenic
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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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NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly. | Pomarino D | Global medical genetics | 2023 | PMID: 37091313 |
Ataxia-Telangiectasia. | Adam MP | - | 2023 | PMID: 20301790 |
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study. | Karlsson Q | European urology oncology | 2021 | PMID: 33436325 |
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients. | Feliubadaló L | Clinical chemistry | 2021 | PMID: 33280026 |
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario. | Lerner-Ellis J | Journal of cancer research and clinical oncology | 2021 | PMID: 32885271 |
Monogenic variants in dystonia: an exome-wide sequencing study. | Zech M | The Lancet. Neurology | 2020 | PMID: 33098801 |
Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity. | Suspitsin EN | Clinical genetics | 2020 | PMID: 32441320 |
Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women. | Palmer JR | Journal of the National Cancer Institute | 2020 | PMID: 32427313 |
ATM mutation spectrum in Russian children with ataxia-telangiectasia. | Suspitsin E | European journal of medical genetics | 2020 | PMID: 30772474 |
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. | Capalbo A | PLoS genetics | 2019 | PMID: 31589614 |
Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition. | Tedaldi G | Cancers | 2019 | PMID: 31514334 |
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. | eMERGE Consortium. Electronic address: agibbs@bcm.edu | American journal of human genetics | 2019 | PMID: 31447099 |
[Ataxia-telangiectasia with rare phenotype and unusual pedigree]. | Rudenskaya GE | Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova | 2019 | PMID: 31407689 |
Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants. | Hutchings D | Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2019 | PMID: 31285527 |
Functional classification of ATM variants in ataxia-telangiectasia patients. | Fiévet A | Human mutation | 2019 | PMID: 31050087 |
Cancer susceptibility gene mutations in type I and II endometrial cancer. | Long B | Gynecologic oncology | 2019 | PMID: 30612635 |
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. | Schon K | Annals of neurology | 2019 | PMID: 30549301 |
Germline pathogenic variants identified in women with ovarian tumors. | Carter NJ | Gynecologic oncology | 2018 | PMID: 30322717 |
Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma. | Brand R | Cancer | 2018 | PMID: 30067863 |
Pancreatic cancer as a sentinel for hereditary cancer predisposition. | Young EL | BMC cancer | 2018 | PMID: 29945567 |
Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population. | Goidescu IG | Clujul medical (1957) | 2018 | PMID: 29785153 |
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. | Waszak SM | The Lancet. Oncology | 2018 | PMID: 29753700 |
Pathogenic Germline Variants in 10,389 Adult Cancers. | Huang KL | Cell | 2018 | PMID: 29625052 |
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. | Hauke J | Cancer medicine | 2018 | PMID: 29522266 |
Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk. | West AH | Familial cancer | 2018 | PMID: 29445900 |
Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy. | Dudley B | Cancer | 2018 | PMID: 29360161 |
Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma. | Parry EM | Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer | 2017 | PMID: 28843361 |
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. | Decker B | Journal of medical genetics | 2017 | PMID: 28779002 |
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. | Shindo K | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2017 | PMID: 28767289 |
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. | LaDuca H | PloS one | 2017 | PMID: 28152038 |
Ataxia-telangiectasia: Immunodeficiency and survival. | van Os NJH | Clinical immunology (Orlando, Fla.) | 2017 | PMID: 28126470 |
ATM mutations for surgeons. | Mansfield SA | Familial cancer | 2017 | PMID: 27988859 |
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. | Seifert BA | Clinical cancer research : an official journal of the American Association for Cancer Research | 2016 | PMID: 27083775 |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
Patterns and functional implications of rare germline variants across 12 cancer types. | Lu C | Nature communications | 2015 | PMID: 26689913 |
Prevalence of deleterious ATM germline mutations in gastric cancer patients. | Huang DS | Oncotarget | 2015 | PMID: 26506520 |
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. | Hansford S | JAMA oncology | 2015 | PMID: 26182300 |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | Yurgelun MB | Gastroenterology | 2015 | PMID: 25980754 |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. | Tung N | Cancer | 2015 | PMID: 25186627 |
Ten new ATM alterations in Polish patients with ataxia-telangiectasia. | Podralska MJ | Molecular genetics & genomic medicine | 2014 | PMID: 25614872 |
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. | Huang Y | Neuromolecular medicine | 2013 | PMID: 23807571 |
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. | Verhagen MM | Human mutation | 2012 | PMID: 22213089 |
New mutations in the ATM gene and clinical data of 25 AT patients. | Demuth I | Neurogenetics | 2011 | PMID: 21965147 |
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. | Reiman A | British journal of cancer | 2011 | PMID: 21792198 |
Clinical spectrum of ataxia-telangiectasia in adulthood. | Verhagen MM | Neurology | 2009 | PMID: 19535770 |
The spectrum of ATM missense variants and their contribution to contralateral breast cancer. | Broeks A | Breast cancer research and treatment | 2008 | PMID: 17393301 |
Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study. | Verhagen MM | Neuropediatrics | 2007 | PMID: 17985259 |
The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer. | Stredrick DL | Human mutation | 2006 | PMID: 16652348 |
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. | Mitui M | Annals of human genetics | 2005 | PMID: 16266405 |
ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia. | Birrell GW | Human mutation | 2005 | PMID: 15880721 |
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. | Campbell C | Human mutation | 2003 | PMID: 12497634 |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. | Li A | American journal of medical genetics | 2000 | PMID: 10817650 |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. | Teraoka SN | American journal of human genetics | 1999 | PMID: 10330348 |
Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | Sandoval N | Human molecular genetics | 1999 | PMID: 9887333 |
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. | Broeks A | Human mutation | 1998 | PMID: 9792409 |
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. | Stankovic T | American journal of human genetics | 1998 | PMID: 9463314 |
Analysis of the ATM protein in wild-type and ataxia telangiectasia cells. | Lakin ND | Oncogene | 1996 | PMID: 9000145 |
Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. | Byrd PJ | Human molecular genetics | 1996 | PMID: 8789452 |
Mutations associated with variant phenotypes in ataxia-telangiectasia. | McConville CM | American journal of human genetics | 1996 | PMID: 8755918 |
[Diagnostic procedure of adult T-cell leukemia--comparison of methods to detect anti-ATLA]. | Kobayashi T | Rinsho byori. The Japanese journal of clinical pathology | 1987 | PMID: 2884336 |
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Text-mined citations for rs587779817 ...
HelpRecord last updated Oct 13, 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.