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]
  • See Evidence submitted by expert panel for details.

Variant: NM_004360.5(CDH1):c.-45C>T

CA16620225

421431 (ClinVar)

Gene: CDH1
Condition: hereditary diffuse gastric cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: a071fe2b-028d-48f5-bc98-f649a4181201
Approved on: 2020-02-18
Published on: 2020-06-03

HGVS expressions

NM_004360.5:c.-45C>T
NM_004360.5(CDH1):c.-45C>T
NC_000016.10:g.68737371C>T
CM000678.2:g.68737371C>T
NC_000016.9:g.68771274C>T
CM000678.1:g.68771274C>T
NC_000016.8:g.67328775C>T
NG_008021.1:g.5080C>T
ENST00000261769.10:c.-45C>T
ENST00000261769.9:c.-45C>T
ENST00000422392.6:c.-45C>T
ENST00000566510.5:c.-45C>T
ENST00000566612.5:c.-45C>T
ENST00000611625.4:c.-45C>T
ENST00000612417.4:c.-45C>T
ENST00000621016.4:c.-45C>T
NM_004360.3:c.-45C>T
NM_001317184.1:c.-45C>T
NM_001317185.1:c.-1660C>T
NM_001317186.1:c.-1864C>T
NM_004360.4:c.-45C>T
NM_001317184.2:c.-45C>T
NM_001317185.2:c.-1660C>T
NM_001317186.2:c.-1864C>T
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Uncertain Significance

Not Met criteria codes 26
BA1 BS2 BS1 BS4 BS3 BP4 BP3 BP1 BP2 BP5 BP7 PS1 PS2 PS3 PS4 PP1 PP2 PP3 PP4 PM6 PM2 PM1 PM3 PM5 PM4 PVS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
CDH1 VCEP
The c.-45C>T variant does not meet any criteria codes. In summary, this variant meets criteria to be classified as a variant of uncertain significance based on ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel: None.
Not Met criteria codes
BA1
This variant is absent from populations in gnomAD, ExAC, 1000 Genomes and ESP.
BS2
This variant was observed in two individuals whose families do not suggest HDGC (SCV000570636.4).
BS1
This variant is absent from populations in gnomAD, ExAC, 1000 Genomes and ESP.
BS4
To our knowledge, segregation of this variant has not been reported.
BS3
BS3 does not apply to this variant.
BP4
BP4 does not apply to variants in the UTRs.
BP3
BP3 does not apply to CDH1.
BP1
BP1 does not apply to CDH1.
BP2
To our knowledge, this variant has not been observed in cis or trans with a known pathogenic variant.
BP5
This variant was not observed in a case with an alternate basis for disease.
BP7
BP7 does not apply to this variant.
PS1
PS1 does not apply to this variant.
PS2
To our knowledge this variant has not been reported as de novo.
PS3
PS3 does not apply to this variant.
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
To our knowledge, segregation of this variant has not been reported.
PP2
PP2 does not apply to CDH1.
PP3
PP3 does not apply to variants in the UTRs.
PP4
PP4 does not apply to CDH1.
PM6
To our knowledge this variant has not been reported as de novo.
PM2
This variant presents once (1/42060) in African subpopulation of gnomAD v3.
PM1
PM1 does not apply to this variant.
PM3
PM3 does not apply to CDH1.
PM5
PM5 does not apply to CDH1.
PM4
PM4 does not apply to this variant.
PVS1
PVS1 does not apply to this variant.
Curation History
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