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]

Variant: NM_004360.5(CDH1):c.2144del (p.Gly715fs)

CA658683963

491520 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 5dadd3a9-e4af-4551-807d-8c760f4bb2a2
Approved on: 2023-08-04
Published on: 2023-08-04

HGVS expressions

NM_004360.5:c.2144del
NM_004360.5(CDH1):c.2144del (p.Gly715fs)
NC_000016.10:g.68823606del
CM000678.2:g.68823606del
NC_000016.9:g.68857509del
CM000678.1:g.68857509del
NC_000016.8:g.67415010del
NG_008021.1:g.91315del
ENST00000261769.10:c.2144del
ENST00000261769.9:c.2144del
ENST00000422392.6:c.1961del
ENST00000562118.1:n.362del
ENST00000562836.5:n.2215del
ENST00000566510.5:c.*810del
ENST00000566612.5:c.*384del
ENST00000611625.4:c.2207del
ENST00000612417.4:c.1830+1487del
ENST00000621016.4:c.1865+1452del
NM_004360.3:c.2144del
NM_001317184.1:c.1961del
NM_001317185.1:c.596del
NM_001317186.1:c.179del
NM_004360.4:c.2144del
NM_001317184.2:c.1961del
NM_001317185.2:c.596del
NM_001317186.2:c.179del
More

Pathogenic

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

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.2144del (p.Gly715fs) variant is predicted to result in a premature stop codon at position 7 of the new reading frame that leads to nonsense mediate decay (PVS1 and PM5_supporting). The variant is absent in the gnomAD cohort (PM2_supporting; http://https://gnomad.broadinstitute.org/). 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, PM5_supporting.
Met criteria codes
PM2_Supporting
absent from gnomAD
PM5_Supporting
predicted to result in a premature stop codon at position 7 of the new reading frame
PVS1
predicted to result in a premature stop codon at position 7 of the new reading frame
Not Met criteria codes
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
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
PS1
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
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
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
PM4
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
BA1
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
BS2
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
BP7
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
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
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.