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]
  • No ClinVar Id was directly found from the curated document
  • ClinVar Id was derived from the Allele Registry.

Variant: NM_004360.3:c.614T>C

CA396458013

599654 (ClinVar)

Gene: CDH1 (HGNC:999)
Condition: CDH1-related diffuse gastric and lobular breast cancer (MONDO:0007648)
Inheritance Mode: Autosomal dominant inheritance
UUID: 36659513-f448-4457-900a-485812518ebb
Approved on: 2018-11-22
Published on: 2018-12-07

HGVS expressions

NM_004360.3:c.614T>C
NC_000016.10:g.68808775T>C
CM000678.2:g.68808775T>C
NC_000016.9:g.68842678T>C
CM000678.1:g.68842678T>C
NC_000016.8:g.67400179T>C
NG_008021.1:g.76484T>C
ENST00000261769.10:c.614T>C
ENST00000261769.9:c.614T>C
ENST00000422392.6:c.614T>C
ENST00000561751.1:n.381T>C
ENST00000562836.5:n.685T>C
ENST00000564676.5:n.896T>C
ENST00000566510.5:c.531+208T>C
ENST00000566612.5:c.614T>C
ENST00000567320.1:n.124T>C
ENST00000611625.4:c.614T>C
ENST00000612417.4:c.614T>C
ENST00000621016.4:c.614T>C
NM_001317184.1:c.614T>C
NM_001317185.1:c.-1002T>C
NM_001317186.1:c.-1206T>C
NM_004360.4:c.614T>C
NM_004360.5:c.614T>C
NM_001317184.2:c.614T>C
NM_001317185.2:c.-1002T>C
NM_001317186.2:c.-1206T>C
NM_004360.5(CDH1):c.614T>C (p.Phe205Ser)
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Uncertain Significance

Met criteria codes 2
PM2_Supporting PS4_Supporting
Not Met criteria codes 24
PS2 PS1 PS3 BA1 PP1 PP4 PP2 PP3 PM3 PM1 PM4 PM5 PM6 BS4 BS3 BS1 BS2 BP5 BP7 BP2 BP3 BP1 BP4 PVS1

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.614T>C (p. Phe205Ser) variant is absent in the gnomAD cohort (PM2_Supporting). This variant has been reported in at least one family meeting HDGC clinical criteria (PS4_Supporting; internal laboratory contributor). In summary, 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, PS4_Supporting.
Met criteria codes
PM2_Supporting
Absent from gnomAD databases.
PS4_Supporting
1 proband with DGC with age of dx at 35.
Not Met criteria codes
PS2
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
Data suggests that cells with this variant have reduced cell compaction, increased cell invasion and reduced E-cadherin at the cell membrane.
BA1
Absent from control databases.
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
PP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
Multiple computational tools predict a deleterious effect on protein function.
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
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
Data suggests that cells with this variant have reduced cell compaction, increased cell invasion and reduced E-cadherin at the cell membrane.
BS1
Absent from control databases.
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
BP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
Multiple computational tools predict a deleterious effect on protein function.
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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