CNV Technical Standards Web Series

A multi-part web series to educate the community about the newly released ACMG/ClinGen technical standards for interpretation and reporting of constitutional copy number variants (CNVs).

Examples


CNV A - Pre-/Post-Series Evaluation Project

CNV A - Pre-/Post-Series Evaluation Project

arr[GRCh37]12p13.1p12.3(12864101_14983330)x1

This case is part of the pre-/post-web series evaluation project, and is an example of overlap with the ClinGen Dosage Sensitivity Map.

CNV B - Pre-/Post-Series Evaluation Project

CNV B - Pre-/Post-Series Evaluation Project

arr[GRCh37]11p11.2(45904399_46480747)x1 (dn)

This case is part of the pre-/post-web series evaluation project, and is an example of overlap with the ClinGen Dosage Sensitivity Map.

CNV C - Pre-/Post-Series Evaluation Project

CNV C - Pre-/Post-Series Evaluation Project

arr[GRCh37] 18q21.2(53049652_53134356)x 1

This case is part of the pre-/post-web series evaluation project, and is an example involving an intragenic variant.

Case U - Presented on Overview Webinar (Jan 16, 2020)

Case U - Presented on Overview Webinar (Jan 16, 2020)

arr[GRCh37] 9q31.2(108597937_111269478)x1

This case involves case-level data, and illustrates how to incorporate ClinGen Dosage Sensitivity scores other than 3 (sufficient evidence for dosage sensitivity) or 40 (dosage sensitivity unlikely).

Case V - Presented on Dosage Webinar (Jan 23, 2020)

Case V - Presented on Dosage Webinar (Jan 23, 2020)

arr[GRCh37] Xp22.11(23223505_23660309)x1 mat

This case involves overlap with a known haploinsufficient gene on the X chromosome in a female.

Case W - Presented on Case Data Webinar (January 30, 2020)

Case W - Presented on Case Data Webinar (January 30, 2020)

arr[GRCh37] 5q23.2(125989631_126295396)x3

This case illustrates how to score case-level data, including segregation data, and points to consider before overriding category maximums.

Case X - Presented on Case-Control Webinar (February 13, 2020)

Case X - Presented on Case-Control Webinar (February 13, 2020)

arr[GRCh37] 2p21(45408934_45976420)x3

This case illustrates how to assess case-control data.

Case Y - Presented on gnomAD SV Webinar (February 20, 2020)

Case Y - Presented on gnomAD SV Webinar (February 20, 2020)

arr[GRCh37] 4q13.2(69373811-69491113)x1 pat

This case illustrates how to use population data.

Case Z - Presented on the DGV Webinar (February 27, 2020)

Case Z - Presented on the DGV Webinar (February 27, 2020)

arr[GRCH37] 19p13.11(18291753_18311626)x3

This case illustrates how to use population data, as well as points to consider when deciding if a 1% population allele frequency is too high for the particular phenotype under investigation.