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_004360.3(CDH1):c.603delT (p.Val202Leufs)

CA645369675

428620 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 823147f4-0b00-4f3e-b750-2a3f3dec1ee0
Approved on: 2023-08-25
Published on: 2023-08-25

HGVS expressions

NM_004360.3:c.603delT
NM_004360.3(CDH1):c.603delT (p.Val202Leufs)
NC_000016.10:g.68808764del
CM000678.2:g.68808764del
NC_000016.9:g.68842667del
CM000678.1:g.68842667del
NC_000016.8:g.67400168del
NG_008021.1:g.76473del
ENST00000261769.10:c.603del
ENST00000261769.9:c.603del
ENST00000422392.6:c.603del
ENST00000561751.1:n.370del
ENST00000562836.5:n.674del
ENST00000564676.5:n.885del
ENST00000566510.5:c.531+197del
ENST00000566612.5:c.603del
ENST00000567320.1:n.113del
ENST00000611625.4:c.603del
ENST00000612417.4:c.603del
ENST00000621016.4:c.603del
NM_004360.3:c.603del
NM_001317184.1:c.603del
NM_001317185.1:c.-1013del
NM_001317186.1:c.-1217del
NM_004360.4:c.603del
NM_004360.5:c.603del
NM_001317184.2:c.603del
NM_001317185.2:c.-1013del
NM_001317186.2:c.-1217del
NM_004360.5(CDH1):c.603del (p.Val202fs)

Pathogenic

Met criteria codes 4
PVS1 PS4_Supporting PM5_Supporting PM2_Supporting
Not Met criteria codes 22
BS3 BS4 BS1 BS2 BP7 BP5 BP3 BP4 BP1 BP2 PS1 PS3 PS2 BA1 PP3 PP2 PP4 PP1 PM6 PM4 PM1 PM3

Evidence Links 1

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.603delT p.(Val202Leufs) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1, PM5_Supporting). This variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). The variant has been reported in at least one family meeting HDGC clinical criteria (PS4_Supporting; SCV000580694.3). 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_Supporting, PM5_Supporting.
Met criteria codes
PVS1
Exon 5 of 16. Predicted NMD.
PS4_Supporting
SCV000580694.3 - one family meets criteria (2 LBC (one <50yo) and 1DGC). PMID: 26025002 - Found in one(?) proband who meets(?) IGCLC criteria. 40 variants identified in 52 individuals. Of 52 variant carriers, 41 individuals met criteria and 11 did not. No detailed information.
Found in one(?) proband who meets IGCLC criteria. 40 variants identified in 52 individuals. PubMed:26025002
PM5_Supporting
Apply PM5_Supporting to nonsense/frameshift variants that are predicted/proved to undergo NMD.
PM2_Supporting
Absent in population databases.
Not Met criteria codes
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
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
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
BA1
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
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
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