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]
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Variant: NM_004360.5(CDH1):c.2164+17dup

CA8130206

259292 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 36d4a3ca-4d22-4d12-a8ff-fb56051b625d
Approved on: 2023-08-10
Published on: 2023-08-10

HGVS expressions

NM_004360.5:c.2164+17dup
NM_004360.5(CDH1):c.2164+17dup
NC_000016.10:g.68823643dup
CM000678.2:g.68823643dup
NC_000016.9:g.68857546dup
CM000678.1:g.68857546dup
NC_000016.8:g.67415047dup
NG_008021.1:g.91352dup
ENST00000261769.10:c.2164+17dup
ENST00000261769.9:c.2164+17dup
ENST00000422392.6:c.1981+17dup
ENST00000562118.1:n.382+17dup
ENST00000562836.5:n.2235+17dup
ENST00000566510.5:c.*830+17dup
ENST00000566612.5:c.*404+17dup
ENST00000611625.4:c.2227+17dup
ENST00000612417.4:c.1830+1524dup
ENST00000621016.4:c.1865+1489dup
NM_004360.3:c.2164+17dup
NM_001317184.1:c.1981+17dup
NM_001317185.1:c.616+17dup
NM_001317186.1:c.199+17dup
NM_004360.4:c.2164+17dup
NM_001317184.2:c.1981+17dup
NM_001317185.2:c.616+17dup
NM_001317186.2:c.199+17dup

Benign

Met criteria codes 2
BP2 BA1
Not Met criteria codes 24
PVS1 BP7 BP5 BP4 BP1 BP3 PS1 PS3 PS4 PS2 PP3 PP2 PP1 PP4 PM6 PM2 PM4 PM5 PM1 PM3 BS2 BS3 BS4 BS1

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 NM_004360.5(CDH1):c.2164+17dup variant has an allele frequency of 0.1034 (10%, 3634/35146 alleles, 197 homozygotes) in the Latino subpopulation of the gnomAD v2.1.1 cohort (BA1; BP2). Therefore, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BA1, BP2.
Met criteria codes
BP2
197 Latino homozygotes in the controls cohort in gnomAD v2.1.1
BA1
MAF > 0.2%: Latino AF is 0.1034 (3634/35146 alleles, 197 homozygotes in gnomAD v2.1.1)
Not Met criteria codes
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
Not assessed, because BA1 met
BP5
Not assessed, because BA1 met
BP4
Not assessed, because BA1 met
BP1
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
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
PS4
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
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
PP4
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
PM2
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
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
BS2
Not assessed, because BA1 met
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
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