The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]


Variant: NM_000051.3(ATM):c.8751C>T (p.Gly2917=)

CA6266433

453745 (ClinVar)

Gene: ATM
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: bbb30cdd-1d44-409d-a690-74be27c1e4c6
Approved on: 2022-03-09
Published on: 2022-07-11

HGVS expressions

NM_000051.3:c.8751C>T
NM_000051.3(ATM):c.8751C>T (p.Gly2917=)
NC_000011.10:g.108353845C>T
CM000673.2:g.108353845C>T
NC_000011.9:g.108224572C>T
CM000673.1:g.108224572C>T
NC_000011.8:g.107729782C>T
NG_009830.1:g.136014C>T
NG_054724.1:g.120988G>A
ENST00000278616.9:c.8751C>T
ENST00000638786.2:n.1449C>T
ENST00000682286.1:n.3508C>T
ENST00000682302.1:n.3169C>T
ENST00000683174.1:n.10235C>T
ENST00000683524.1:n.3975C>T
ENST00000684152.1:n.4167C>T
ENST00000684180.1:n.1225C>T
ENST00000684447.1:n.5244C>T
ENST00000527805.6:c.*3815C>T
ENST00000675595.1:c.*3886C>T
ENST00000675843.1:c.8751C>T
ENST00000278616.8:c.8751C>T
ENST00000452508.6:c.8751C>T
ENST00000524755.5:n.227-18553G>A
ENST00000524792.5:n.4966C>T
ENST00000525178.5:n.239C>T
ENST00000525729.5:c.640+32075G>A
ENST00000526725.1:n.272-13481G>A
ENST00000527181.1:n.90C>T
ENST00000527531.5:c.*1196+1070G>A
ENST00000615746.4:c.*1196+1070G>A
NM_001330368.1:c.640+32075G>A
NM_001351110.1:c.695-18553G>A
NM_001351834.1:c.8751C>T
NR_147053.2:n.2301+1070G>A
NM_001330368.2:c.640+32075G>A
NM_001351110.2:c.695-18553G>A
NM_001351834.2:c.8751C>T
NM_000051.4:c.8751C>T
NR_147053.3:n.2299+1070G>A
NM_000051.4(ATM):c.8751C>T (p.Gly2917=)
More

Likely Benign

Met criteria codes 3
PM2_Supporting BP7 BP4
Not Met criteria codes 3
PP3 BS1 BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.1

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Hereditary Breast, Ovarian and Pancreatic Cancer VCEP
The ATM c.8751C>T (p.Gly2917=) variant has a GnomAD (v2.1.1) allele frequency of 0.000%, which is below the ATM PM2 threshold of 0.001% (PM2_Supporting). It is a synonymous variant (BP7). This variant is not predicted to impact splicing in multiple RNA in silico tools (BP4). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria applied, as specified by the HBOP Variant Curation Expert Panel.
Met criteria codes
PM2_Supporting
GnomAD AF 0.000% is less than ATM PM2 threshold of 0.001%
BP7
This variant creates a synonymous change (BP7).
BP4
In silico splicing predictors (SpliceAI AL/DL/AG/DG 0%), (MaxEntscan-no predicted splice sites) predict that this alteration will not have a significant impact on splicing (BP4).
Not Met criteria codes
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
GnomAD AF 0.000% is less than ATM BS1 threshold of 0.05%.
BA1
GnomAD AF 0.000% is less than ATM BA1 threshold of 0.5%.
Curation History
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