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Variant: NM_000051.3(ATM):c.146C>G (p.Ser49Cys)

CA202190

3048 (ClinVar)

Gene: ATM
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 0ea617e8-2bed-480f-9f56-843da825a738
Approved on: 2022-03-09
Published on: 2022-07-11

HGVS expressions

NM_000051.3:c.146C>G
NM_000051.3(ATM):c.146C>G (p.Ser49Cys)
NC_000011.10:g.108227849C>G
CM000673.2:g.108227849C>G
NC_000011.9:g.108098576C>G
CM000673.1:g.108098576C>G
NC_000011.8:g.107603786C>G
NG_009830.1:g.10018C>G
ENST00000278616.9:c.146C>G
ENST00000682147.1:n.276C>G
ENST00000682430.1:n.245C>G
ENST00000682465.1:c.146C>G
ENST00000682516.1:n.280C>G
ENST00000682956.1:n.280C>G
ENST00000683150.1:c.146C>G
ENST00000683174.1:n.296C>G
ENST00000683468.1:c.146C>G
ENST00000683488.1:n.4806C>G
ENST00000683914.1:c.146C>G
ENST00000684029.1:c.146C>G
ENST00000684037.1:c.146C>G
ENST00000684061.1:n.280C>G
ENST00000684179.1:n.280C>G
ENST00000527805.6:c.146C>G
ENST00000638443.1:c.146C>G
ENST00000639240.1:c.146C>G
ENST00000639953.1:c.146C>G
ENST00000640388.1:c.146C>G
ENST00000675595.1:c.146C>G
ENST00000675843.1:c.146C>G
ENST00000278616.8:c.146C>G
ENST00000452508.6:c.146C>G
ENST00000526567.5:c.146C>G
ENST00000527805.5:c.146C>G
ENST00000527891.5:c.146C>G
ENST00000530958.5:c.146C>G
ENST00000532931.5:c.146C>G
ENST00000601453.2:c.146C>G
NM_001351834.1:c.146C>G
NM_001351835.1:c.146C>G
NM_001351836.1:c.146C>G
NM_001351834.2:c.146C>G
NM_000051.4:c.146C>G
NM_001351835.2:c.146C>G
NM_001351836.2:c.146C>G
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
More

Benign

Met criteria codes 2
BA1 BP2_Strong
Not Met criteria codes 2
PP3 BP4

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

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Hereditary Breast, Ovarian and Pancreatic Cancer VCEP
The ATM c.146C>G (p.Ser49Cys) variant has a GnomAD (v2.1.1) filtering allele frequency of 1.208% (NFE) which is above the ATM BA1 threshold of .5% (BA1). This variant has been observed in a homozygous and/or compound heterozygous state (presumed) in multiple individuals without Ataxia-Telangiectasia (Laboratory data) (BP2_Strong). In summary, this variant meets criteria to be classified as benign based on the ACMG/AMP criteria applied as specified by the HBOP Variant Curation Expert Panel.
Met criteria codes
BA1
This variant has a GnomAD (v2.1.1) filtering allele frequency of 1.208% (NFE) which is above the ATM BS1 threshold of .5% (BA1)
BP2_Strong
This variant has been observed in a homozygous and/or compound heterozygous state (presumed and/or confirmed) in multiple individuals without Ataxia-Telangiectasia (Laboratory data -24)
Not Met criteria codes
PP3
Conflicting predictors
BP4
Conflicting predictors
Curation History
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