Variant: NM_004360.4(CDH1):c.363C>A (p.His121Gln)

CA8129833

582514 (ClinVar)

Gene: CDH1

Condition: CDH1-related diffuse gastric and lobular breast cancer

Inheritance Mode: Autosomal dominant inheritance

UUID: b0388c61-4118-4cf7-90e1-627bd8d2bf84

Approved on: 2023-08-21

Published on: 2023-08-21

HGVS expressions

NM_004360.4:c.363C>A
NM_004360.4(CDH1):c.363C>A (p.His121Gln)
NC_000016.10:g.68801869C>A
CM000678.2:g.68801869C>A
NC_000016.9:g.68835772C>A
CM000678.1:g.68835772C>A
NC_000016.8:g.67393273C>A
NG_008021.1:g.69578C>A
ENST00000261769.10:c.363C>A
ENST00000261769.9:c.363C>A
ENST00000422392.6:c.363C>A
ENST00000561751.1:n.130C>A
ENST00000562836.5:n.434C>A
ENST00000564676.5:n.645C>A
ENST00000564745.1:n.358C>A
ENST00000566510.5:c.363C>A
ENST00000566612.5:c.363C>A
ENST00000611625.4:c.363C>A
ENST00000612417.4:c.363C>A
ENST00000621016.4:c.363C>A
NM_004360.3:c.363C>A
NM_001317184.1:c.363C>A
NM_001317185.1:c.-1253C>A
NM_001317186.1:c.-1457C>A
NM_004360.5:c.363C>A
NM_001317184.2:c.363C>A
NM_001317185.2:c.-1253C>A
NM_001317186.2:c.-1457C>A
NM_004360.5(CDH1):c.363C>A (p.His121Gln)

Uncertain Significance

• Met criteria codes: PM2_Supporting

• Not Met criteria codes: BA1 BP7 BP5 BP3 BP4 BP1 BP2 BS3 BS4 BS1 BS2 PVS1 PP4 PP3 PP2 PP1 PM6 PS1 PS3 PS2 PS4 PM4 PM5 PM1 PM3

Expert Panel

CDH1 VCEP

Criteria Specification Information

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

Evidence submitted by expert panel

CDH1 VCEP

The c.363C>A variant is <1/50,000 alleles (0.002%, 2/113,262 alleles) in the non-Finnish European gnomAD subpopulation (PM2_Supporting; http://gnomad.broadinstitute.org). No additional evidence met criteria for consideration. Therefore, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): PM2_Supporting.

Met criteria codes

• PM2_Supporting: <1/50,000 alleles in a gnomAD subpopulation. Allele frequency of 0.00001766 (0.002%, 2/113,262 alleles) in the non-Finnish European subpopulation - gnomAD v2.1.1

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
• PVS1: 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
• 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: SCV000835669.1 - This family does not meet clinical criteria for HDGC.
• PM4: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PM5: 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