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_004360.4(CDH1):c.208dup (p.Ser70Phefs)

CA645596587

463742 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 529b4404-fa68-47ea-9b98-9114bb2d72ba

HGVS expressions

NM_004360.4:c.208dup
NM_004360.4(CDH1):c.208dup (p.Ser70Phefs)
NC_000016.10:g.68801714dup
CM000678.2:g.68801714dup
NC_000016.9:g.68835617dup
CM000678.1:g.68835617dup
NC_000016.8:g.67393118dup
NG_008021.1:g.69423dup
ENST00000261769.10:c.208dup
ENST00000261769.9:c.208dup
ENST00000422392.6:c.208dup
ENST00000562836.5:n.279dup
ENST00000564676.5:n.490dup
ENST00000564745.1:n.203dup
ENST00000566510.5:c.208dup
ENST00000566612.5:c.208dup
ENST00000611625.4:c.208dup
ENST00000612417.4:c.208dup
ENST00000621016.4:c.208dup
NM_004360.3:c.208dup
NM_001317184.1:c.208dup
NM_001317185.1:c.-1408dup
NM_001317186.1:c.-1612dup
NM_004360.5:c.208dup
NM_001317184.2:c.208dup
NM_001317185.2:c.-1408dup
NM_001317186.2:c.-1612dup
NM_004360.5(CDH1):c.208dup (p.Ser70fs)

Pathogenic

Met criteria codes 4
PM2_Supporting PVS1 PS4_Moderate PM5_Supporting
Not Met criteria codes 22
BA1 BS2 BS4 BS3 BS1 BP3 BP2 BP4 BP1 BP7 BP5 PS2 PS1 PS3 PP4 PP3 PP2 PP1 PM4 PM3 PM1 PM6

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.208dup p.(Ser70Phefs) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1, PM5_Supporting). The variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). This variant has been reported in at least two family meeting HDGC clinical criteria (PS4_Moderate; SCV000637771.2, SCV000779081.2). In summary, 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 (Variant Interpretation Guidelines Version 3.1): PVS1, PM2_Supporting, PS4_Moderate, PM5_Supporting.
Met criteria codes
PM2_Supporting
Absent in population database.
PVS1
Predicted NMD.
PS4_Moderate
SCV000637771.2, SCV000779081.2 - meet IGCLC HDGC criteria.
PM5_Supporting
Apply PM5_Supporting to nonsense/frameshift variants that are predicted/proved to undergo NMD.
Not Met criteria codes
BA1
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
BS4
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
BS1
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
BP2
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
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
PS2
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
PP4
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
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
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
PM1
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
Approved on: 2023-08-29
Published on: 2023-08-29
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