ClinVar Genomic variation as it relates to human health
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
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.902G>A (p.Gly301Asp)
Variation ID: 188359 Accession: VCV000188359.64
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11q22.3 11: 108246964 (GRCh38) [ NCBI UCSC ] 11: 108117691 (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 3, 2018 Oct 8, 2024 Mar 27, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000051.4:c.902G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000042.3:p.Gly301Asp missense NM_001351834.2:c.902G>A NP_001338763.1:p.Gly301Asp missense NC_000011.10:g.108246964G>A NC_000011.9:g.108117691G>A NG_009830.1:g.29133G>A LRG_135:g.29133G>A LRG_135t1:c.902G>A LRG_135p1:p.Gly301Asp - Protein change
- G301D
- Other names
- -
- Canonical SPDI
- NC_000011.10:108246963:G:A
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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.
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD) 0.00007
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00005
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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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Uncertain significance (6) |
criteria provided, multiple submitters, no conflicts
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Feb 1, 2024 | RCV000168392.25 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Apr 3, 2023 | RCV000221865.14 | |
Uncertain significance (9) |
criteria provided, multiple submitters, no conflicts
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Jan 22, 2024 | RCV000585382.37 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV001355167.4 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Mar 27, 2024 | RCV001762393.7 | |
Uncertain significance (1) |
criteria provided, single submitter
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Apr 19, 2022 | RCV002485047.2 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Sep 28, 2023 | RCV001818406.7 |
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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Uncertain significance
(Jan 17, 2018)
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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: SCV000805636.1
First in ClinVar: Sep 13, 2018 Last updated: Sep 13, 2018 |
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Uncertain significance
(Apr 22, 2020)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002068092.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
Comment:
DNA sequence analysis of the ATM gene demonstrated a sequence change, c.902G>A, in exon 8 that results in an amino acid change, p.Gly301Asp. This sequence … (more)
DNA sequence analysis of the ATM gene demonstrated a sequence change, c.902G>A, in exon 8 that results in an amino acid change, p.Gly301Asp. This sequence change has been described in the gnomAD database with a frequency of 0.012% in the European sub-population (dbSNP rs202208861). The p.Gly301Asp change has been reported in an individual with breast cancer (PMID: 19781682). The p.Gly301Asp change affects a highly conserved amino acid residue located in a domain of the ATM protein that is not known to be functional. The p.Gly301Asp substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to the lack of functional studies, the clinical significance of the p.Gly301Asp change remains unknown at this time. (less)
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Uncertain significance
(Sep 28, 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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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002572471.2
First in ClinVar: Sep 17, 2022 Last updated: Nov 04, 2023 |
Comment:
Variant summary: ATM c.902G>A (p.Gly301Asp) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more)
Variant summary: ATM c.902G>A (p.Gly301Asp) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. Consensus agreement among computational tools predict no significant impact on normal splicing. Functional assays using a minigene contruct in MCF-7/HeLa cells show that the variant is considered leaky, with 87% of detected transcripts being full length (Bueno-Martinez_2022). The variant allele was found at a frequency of 5.2e-05 in 250398 control chromosomes (gnomAD), predominantly at a frequency of 0.00011 within the Non-Finnish European subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in ATM causing Breast Cancer (5.2e-05 vs 0.001), allowing no conclusion about variant significance. c.902G>A has been reported in the literature in individuals affected with Breast Cancer (e.g. Renwick_2006, Tavtigian_2009, Dorling_2021) and in individuals with Prostate Cancer (e.g. Karlsson_2021, Brady_2022). The variant was also found in 2/7325 European American women over the age of 70 without a history of cancer (FLOSSIES dataset). These reports do not provide unequivocal conclusions about association of the variant with Breast Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 20305132, 33436325, 16832357, 19781682, 35467778, 35716007, 33471991). Fifteen ClinVar submitters have assessed the variant since 2014, and all classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
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Uncertain significance
(Apr 03, 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
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Ambry Genetics
Accession: SCV000273019.9
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
The p.G301D variant (also known as c.902G>A) is located in coding exon 7 of the ATM gene. The glycine at codon 301 is replaced by … (more)
The p.G301D variant (also known as c.902G>A) is located in coding exon 7 of the ATM gene. The glycine at codon 301 is replaced by aspartic acid, an amino acid with similar properties. This change occurs in the first base pair of coding exon 7. This alteration was identified in 1/4112 breast cancer cases and was absent in 2399 controls pooled from case-control studies of ATM (Tavtigian SV et al. Am. J. Hum. Genet. 2009 Oct;85:427-46). More recently, this alteration has been reported in 3/13087 breast cancer cases but was absent in 5488 control individuals from the UK (Decker B et al. J Med Genet. 2017 11;54:732-741). This variant was also detected in 1/5589 German BRCA1/2-negative probands with breast cancer (Hauke J et al. Cancer Med. 2018 04;7:1349-1358). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Uncertain significance
(Oct 18, 2022)
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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: SCV000903251.4
First in ClinVar: May 20, 2019 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces glycine with aspartic acid at codon 301 of the ATM protein. Computational prediction suggests that this variant may not impact protein … (more)
This missense variant replaces glycine with aspartic acid at codon 301 of the ATM protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with prostate cancer (PMID: 33436325) or breast cancer (PMID: 16832357, 19781682, 20305132, 28779002, 29522266). In a large international case-control study, this variant was reported in 17/60466 breast cancer cases and 8/53461 controls (PMID: 33471991). This variant has been identified in 15/281798 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Mar 27, 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: SCV004207039.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Uncertain significance
(Apr 28, 2017)
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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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Illumina Laboratory Services, Illumina
Accession: SCV001263697.1
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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Uncertain significance
(Feb 01, 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: SCV000219085.13
First in ClinVar: Mar 29, 2015 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 301 of the ATM protein … (more)
This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 301 of the ATM protein (p.Gly301Asp). This variant is present in population databases (rs202208861, gnomAD 0.01%). This missense change has been observed in individual(s) with breast cancer, ovarian cancer, and/or prostate cancer (PMID: 16832357, 19781682, 20305132, 29522266, 34326862, 35467778). ClinVar contains an entry for this variant (Variation ID: 188359). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Jan 22, 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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GeneDx
Accession: SCV000564611.8
First in ClinVar: Apr 29, 2017 Last updated: Sep 16, 2024 |
Comment:
Observed to result in multiple transcipts, including full-length, deletion exon 7, and deletion exons 7-8, with deletion exon 7 also detected from wild-type allele (PMID: … (more)
Observed to result in multiple transcipts, including full-length, deletion exon 7, and deletion exons 7-8, with deletion exon 7 also detected from wild-type allele (PMID: 35716007); Observed in individuals with breast or prostate cancer (PMID: 16832357, 19781682, 20305132, 28259476, 28779002, 29522266, 33471991, 33436325); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20346647, 19781682, 28779002, 29522266, 28652578, 33436325, 20305132, 16832357, 28259476, 33471991, 35716007) (less)
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Uncertain significance
(Dec 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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV000692730.29
First in ClinVar: Mar 03, 2018 Last updated: Oct 08, 2024 |
Number of individuals with the variant: 4
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Uncertain significance
(Oct 04, 2016)
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criteria provided, single submitter
Method: clinical testing
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Ataxia-telangiectasia syndrome
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743719.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
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Uncertain significance
(Jan 20, 2017)
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criteria provided, single submitter
Method: clinical testing
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Ataxia-telangiectasia syndrome
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000789258.1
First in ClinVar: Aug 04, 2018 Last updated: Aug 04, 2018 |
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Uncertain significance
(Jan 13, 2022)
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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: SCV002530669.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The ATM c.902G>A (p.G301D) variant has been reported in heterozygosity in individuals with breast or prostate cancer (PMID: 19781682, 29522266, 28779002, 16832357, 20305132, 28259476, 33436325). … (more)
The ATM c.902G>A (p.G301D) variant has been reported in heterozygosity in individuals with breast or prostate cancer (PMID: 19781682, 29522266, 28779002, 16832357, 20305132, 28259476, 33436325). This variant has also been reported in a large breast cancer study in 17/60466 breast cancer cases, and in 8/53461 controls (PMID: 33471991). It was observed in 15/281798 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 188359). Functional studies have not been performed, and in silico predictions of the variant's effect on protein function or splicing are inconclusive. The evidence is insufficient to meet ACMG/AMP criteria for classifying the variant as benign or pathogenic. Thus, the clinical significance of this variant is currently uncertain. (less)
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Uncertain significance
(Jul 18, 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
|
MGZ Medical Genetics Center
Accession: SCV002579656.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PS4_MOD, PM2_SUP, PP3
|
Number of individuals with the variant: 1
Sex: female
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Uncertain significance
(Apr 19, 2022)
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criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Ataxia-telangiectasia syndrome
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002789636.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Uncertain significance
(Nov 03, 2021)
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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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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002010773.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Uncertain significance
(-)
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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: SCV001906337.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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Ataxia-telangiectasia syndrome
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000732988.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Uncertain significance
(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: SCV001456870.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Uncertain significance
(-)
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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: SCV001975561.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Uncertain significance
(-)
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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: SCV002035793.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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Uncertain significance
(-)
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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: SCV001549963.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The ATM p.Gly301Asp variant was identified in 1 of 8224 proband chromosomes (frequency: 0.0001) from individuals or families with breast cancer and was not identified … (more)
The ATM p.Gly301Asp variant was identified in 1 of 8224 proband chromosomes (frequency: 0.0001) from individuals or families with breast cancer and was not identified in 4798 control chromosomes from healthy individuals in a study of pooled data from seven case control studies (Tavtigian 2009). This study’s conclusion was that there is marginal evidence that the combination of ATM protein-truncating, splice site, and rare missense variants contribute to increased breast cancer risk (Tavtigian, 2009). The variant was also identified in dbSNP (ID: rs202208861) “With Uncertain significance allele”, ClinVar (last evaluated Jan 2017 and classified as uncertain significance by Invitae, Ambry Genetics and GeneDx), Clinvitae (2X), and in control databases in 15 of 276658 chromosomes at a frequency of 0.00005 (Genome Aggregation Consortium Feb 27, 2017). It was observed in the European population in 15 of 126334 chromosomes (freq: 0.0001); it was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, Finnish, and South Asian populations. The variant was not identified in the COGR, Cosmic, MutDB, LOVD 3.0, or ATM-LOVD databases. The p.Gly301 residue is conserved across mammals and other organisms, and 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 p.Gly301Asp variant occurs in the first nucleotide of the exon. This position has been shown to be part of the splicing consensus sequence and variants involving this position sometimes affect splicing. In addition, 4 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (less)
Number of individuals with the variant: 2
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Uncertain significance
(-)
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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, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001919600.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Uncertain significance
(-)
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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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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001954940.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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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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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants. | Bueno-Martínez E | The Journal of pathology | 2022 | PMID: 35716007 |
Germline mutations in penetrant cancer predisposition genes are rare in men with prostate cancer selecting active surveillance. | Brady L | Cancer medicine | 2022 | PMID: 35467778 |
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach. | Bhai P | Frontiers in genetics | 2021 | PMID: 34326862 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study. | Karlsson Q | European urology oncology | 2021 | PMID: 33436325 |
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 |
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 |
Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer. | Annala M | European urology | 2017 | PMID: 28259476 |
Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study. | Bernstein JL | Journal of the National Cancer Institute | 2010 | PMID: 20305132 |
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. | Tavtigian SV | American journal of human genetics | 2009 | PMID: 19781682 |
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. | Renwick A | Nature genetics | 2006 | PMID: 16832357 |
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Text-mined citations for rs202208861 ...
HelpRecord last updated Oct 08, 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.