The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_000051.4(ATM):c.217_218del (p.Glu73fs)
CA6264537
569567 (ClinVar)
Gene: ATM
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 673ac80a-e147-4045-9c13-2d6372ba5558
Approved on: 2024-01-25
Published on: 2024-02-14
HGVS expressions
NM_000051.4:c.217_218del
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
NC_000011.10:g.108229209_108229210del
CM000673.2:g.108229209_108229210del
NC_000011.9:g.108099936_108099937del
CM000673.1:g.108099936_108099937del
NC_000011.8:g.107605146_107605147del
NG_009830.1:g.11378_11379del
ENST00000452508.7:c.217_218del
ENST00000683914.2:c.217_218del
ENST00000713593.1:c.217_218del
ENST00000278616.9:c.217_218del
ENST00000682147.1:n.347_348del
ENST00000682430.1:n.316_317del
ENST00000682465.1:c.217_218del
ENST00000682516.1:n.351_352del
ENST00000682956.1:n.351_352del
ENST00000683150.1:c.217_218del
ENST00000683174.1:n.367_368del
ENST00000683468.1:c.217_218del
ENST00000683488.1:n.4877_4878del
ENST00000683914.1:c.217_218del
ENST00000684029.1:c.217_218del
ENST00000684037.1:c.217_218del
ENST00000684061.1:n.351_352del
ENST00000684179.1:n.351_352del
ENST00000527805.6:c.217_218del
ENST00000638443.1:c.217_218del
ENST00000639240.1:c.217_218del
ENST00000639953.1:c.217_218del
ENST00000640388.1:c.217_218del
ENST00000675595.1:c.217_218del
ENST00000675843.1:c.217_218del
ENST00000278616.8:c.217_218del
ENST00000452508.6:c.217_218del
ENST00000526567.5:c.217_218del
ENST00000527805.5:c.217_218del
ENST00000527891.5:c.217_218del
ENST00000530958.5:c.217_218del
ENST00000532931.5:c.217_218del
ENST00000601453.2:c.217_218del
NM_000051.3:c.217_218del
NM_001351834.1:c.217_218del
NM_001351835.1:c.217_218del
NM_001351836.1:c.217_218del
NM_001351834.2:c.217_218del
NM_001351835.2:c.217_218del
NM_001351836.2:c.217_218del
Evidence submitted by expert panel
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