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.121G>T (p.Val41Leu)

CA396452116

481692 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: eaf93bd1-8295-4f6c-8bfb-f6a0520b948b
Approved on: 2023-08-02
Published on: 2023-08-02

HGVS expressions

NM_004360.5:c.121G>T
NM_004360.5(CDH1):c.121G>T (p.Val41Leu)
NC_000016.10:g.68738369G>T
CM000678.2:g.68738369G>T
NC_000016.9:g.68772272G>T
CM000678.1:g.68772272G>T
NC_000016.8:g.67329773G>T
NG_008021.1:g.6078G>T
ENST00000261769.10:c.121G>T
ENST00000261769.9:c.121G>T
ENST00000422392.6:c.121G>T
ENST00000566510.5:c.121G>T
ENST00000566612.5:c.121G>T
ENST00000611625.4:c.121G>T
ENST00000612417.4:c.121G>T
ENST00000621016.4:c.121G>T
NM_004360.3:c.121G>T
NM_001317184.1:c.121G>T
NM_001317185.1:c.-1495G>T
NM_001317186.1:c.-1699G>T
NM_004360.4:c.121G>T
NM_001317184.2:c.121G>T
NM_001317185.2:c.-1495G>T
NM_001317186.2:c.-1699G>T

Uncertain Significance

Met criteria codes 2
BS2_Supporting PM2_Supporting
Not Met criteria codes 24
BP5 BP7 BP2 BP3 BP4 BP1 PS2 PS4 PS3 PS1 PM3 PM1 PM4 PM5 PM6 PP4 PP1 PP3 PP2 BA1 PVS1 BS4 BS3 BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
CDH1 VCEP
The c.121G>T (NM_004360.5) variant in CDH1 is a missense variant predicted to predicted to cause substitution of Val by Leu at amino acid 41 (p.Val41Leu). This variant has been observed in Variant seen in >3 heterozygous individuals without GC, DGC, SRC tumours or LBC and whose families do not suggest HDGC (BS2_Supporting; Ambry, GeneDx, Invitae). This variant is absent from gnomAD 2.1.1 (PM2_Supporting). In summary, this variant is classified as uncertain significance for DGLBCS based on the ACMG/AMP criteria applied, as specified by the ClinGen CDH1 VCEP: PM2_Supporting, BS2_Supporting. (CDH1 VCEP specifications version 3.1; 04/24/2023)
Met criteria codes
BS2_Supporting
This variant has been observed in 7 heterozygous individuals without GC, DGC, SRC tumours or LBC and whose families do not suggest HDGC (BS2_Supporting; Ambry, GeneDx, Invitae).
PM2_Supporting
This variant is absent from populations in gnomAD 2.1.1 (PM2_Supporting).
Not Met criteria codes
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
NA
BP1
NA
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
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
PM5
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
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
NA
PP2
NA
BA1
Variant absent from gnomAD
PVS1
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
Variant absent from gnomAD
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