Open davmlaw opened 10 months ago
Talked to Lucas and Kerryn about CNV classifications
They use 2020 ACMG CNV guidelines
Biggest questions are:
They generally look in gnomadSV to see if common, and ClinVar
Can classify single exon. NGS is for smaller resolution. Often have cyto look at them first
Del much more common for disease causing. As dup needs GOF
Usually looking for overlapping OMIM gene. Rare to report on multiple genes for an event (but possible)
Coordinates
Useful information to retrieve
ClinVar CNV del/dup (separate) counts for gene gnomAD del/dup (separate) counts for gene
Extra Evidence keys
Overlaps
When looking in ClinVar, gnomad SV or thinking about Shariant overlaps, they are happy to be very course, eg gene or exon level overlaps.
Grace sent me some sample data - Thurs 2/11/2023
Talked to Lucas and Kerryn about CNV classifications
They use 2020 ACMG CNV guidelines
Biggest questions are:
They generally look in gnomadSV to see if common, and ClinVar
Can classify single exon. NGS is for smaller resolution. Often have cyto look at them first
Del much more common for disease causing. As dup needs GOF
Usually looking for overlapping OMIM gene. Rare to report on multiple genes for an event (but possible)
Coordinates
Useful information to retrieve
ClinVar CNV del/dup (separate) counts for gene gnomAD del/dup (separate) counts for gene
Extra Evidence keys
Overlaps
When looking in ClinVar, gnomad SV or thinking about Shariant overlaps, they are happy to be very course, eg gene or exon level overlaps.