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

Variant: NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)

CA658658493

479514 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 5c9eed65-3bf9-4a3b-81fe-4017c5b65e33

HGVS expressions

NM_004360.5:c.1679dup
NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)
NC_000016.10:g.68819393dup
CM000678.2:g.68819393dup
NC_000016.9:g.68853296dup
CM000678.1:g.68853296dup
NC_000016.8:g.67410797dup
NG_008021.1:g.87102dup
ENST00000261769.10:c.1679dup
ENST00000261769.9:c.1679dup
ENST00000422392.6:c.1496dup
ENST00000562836.5:n.1750dup
ENST00000566510.5:c.*345dup
ENST00000566612.5:c.1566-2608dup
ENST00000611625.4:c.1742dup
ENST00000612417.4:c.1679dup
ENST00000621016.4:c.1679dup
NM_004360.3:c.1679dup
NM_001317184.1:c.1496dup
NM_001317185.1:c.131dup
NM_001317186.1:c.-254-2608dup
NM_004360.4:c.1679dup
NM_001317184.2:c.1496dup
NM_001317185.2:c.131dup
NM_001317186.2:c.-254-2608dup

Pathogenic

Met criteria codes 3
PM2_Supporting PVS1 PM5_Supporting
Not Met criteria codes 23
BA1 BP7 BP5 BP3 BP4 BP1 BP2 BS3 BS4 BS1 BS2 PP3 PP2 PP4 PP1 PM6 PS1 PS3 PS2 PS4 PM4 PM1 PM3

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
CDH1 VCEP
The c.1679dup p.(Tyr561fs) vvariant is predicted to result in a premature stop codon that leads to nonsense mediate decay (PVS1 and PM5_supporting). The variant is absent in the gnomAD cohort (PM2_supporting; http://gnomad.broadinstitute.org). Therefore, this variant meets criteria to be classified as pathogenic based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (CDH1 VCEP specifications version 3.1): PVS1, PM2_supporting, PM5_supporting.
Met criteria codes
PM2_Supporting
Absent in population databases.
PVS1
Exon 11 of 16, predicted NMD.
PM5_Supporting
Exon 11 of 16, predicted NMD.
Not Met criteria codes
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
SCV000661667.2 (Ambry) - proband ILC in 70s, but family history does not meet criteria. Not in published studies.
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2023-08-04
Published on: 2023-08-04
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