Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

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

CA16620225

421431 (ClinVar)

Gene: CDH1

Condition: CDH1-related diffuse gastric and lobular breast cancer

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: a071fe2b-028d-48f5-bc98-f649a4181201

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

Uncertain Significance

PP1 PP4 PP3 PP2 PM3 PM1 PM4 PM5 PM6 PM2 PVS1 BA1 BS4 BS3 BS1 BS2 BP5 BP7 BP2 BP3 BP4 BP1 PS2 PS4 PS3 PS1

Evidence Links 0

Expert Panel

CDH1 VCEP

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.-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 (Variant Interpretation Guidelines Version 3.1): None.

PP1

To our knowledge, segregation of this variant has not been reported.

PP4

PP4 does not apply to CDH1.

PP3

PP3 does not apply to variants in the UTRs.

PP2

PP2 does not apply to CDH1.

PM3

PM3 does not apply to CDH1.

PM1

PM1 does not apply to this variant.

PM4

PM4 does not apply to this variant.

PM5

PM5 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.

PVS1

PVS1 does not apply to this variant.

BA1

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.

BS1

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).

BP5

This variant was not observed in a case with an alternate basis for disease.

BP7

BP7 does not apply to this variant.

BP2

To our knowledge, this variant has not been observed in cis or trans with a known pathogenic variant.

BP3

BP3 does not apply to CDH1.

BP4

BP4 does not apply to variants in the UTRs.

BP1

BP1 does not apply to CDH1.

PS2

To our knowledge this variant has not been reported as de novo.

PS4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PS3

PS3 does not apply to this variant.

PS1

PS1 does not apply to this variant.

Approved on: 2023-08-21

Published on: 2023-08-21

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