7:72846244-74187855 DEL

CNV summary

Our verdict is Pathogenic. Variant got ACMG score 1.45.

CNV loss of the region 7:72,846,244-74,187,855 (1.3 mb), is localized in (7)(q11.23). The region contains protein-coding and important regions. There is complete overlap with established HI region(s): dbVar:nssv17955650, dbVar:nssv17971140 (and 21 more). Among those, regions with breakpoints not laying inside the transcripts: dbVar:nssv17955650, dbVar:nssv15128343 (and 6 more). There are 26 protein coding genes across 21 gene families: ELN, LIMK1, BAZ1B, EIF4H, MLXIPL, CLDN3, CLDN4, TRIM50, VPS37D, STX1A (and 16 more) in the affected region.

Genes

ABHD11 BAZ1B BCL7B BUD23 CLDN3 CLDN4 DNAJC30 EIF4H ELN FKBP6 FZD9 LIMK1 METTL27 MLXIPL NSUN5 POM121 SPDYE10 SPDYE11 SPDYE8 SPDYE9 STX1A TBL2 TMEM270 TRIM50 TRIM74 VPS37D

ClinGen

TODO

Variant links:

ACMG Results

Pathogenicity Level: Pathogenic

Score: 1.45

Criteria:

LOSS_1A : 0 points
Rule : Contains protein-coding or other known functionally important elements.
Details:
The region contains protein-coding genes, for example: POM121. The region contains important regions, for example: dbVar:nssv17955650.
LOSS_2A : 1 points
Rule : Complete overlap of a known pathogenic Loss SV.
Details:
There is complete overlap with established HI region(s): dbVar:nssv17955650, dbVar:nssv17971140, dbVar:nssv15128343, dbVar:nssv15130113, dbVar:nssv15147201, morbid:DNAJC30, dbVar:nssv15140244, dbVar:nssv15130169, morbid:ELN, dbVar:nssv15770120, dbVar:nssv16214500, dbVar:nssv15167740, dbVar:nssv16208140, HI3:ELN, dbVar:nssv16213814, dbVar:nssv18791884, dbVar:nssv18791887, morbid:FKBP6, dbVar:nssv15137072, dbVar:nssv15128578, dbVar:nssv18786274, dbVar:nssv16214480, dbVar:nssv17172746. Among those, regions with breakpoints not laying inside the transcripts: dbVar:nssv17955650, dbVar:nssv15128343, morbid:DNAJC30, morbid:ELN, dbVar:nssv16208140, HI3:ELN, morbid:FKBP6, dbVar:nssv15137072.
LOSS_3B : 0.45 points
Rule : 25–34 genes
Details:
There are 26 protein coding genes across 21 gene families: ELN, LIMK1, BAZ1B, EIF4H, MLXIPL, CLDN3, CLDN4, TRIM50, VPS37D, STX1A, POM121, FZD9, BUD23, TRIM74, NSUN5, BCL7B, FKBP6, DNAJC30, TBL2, ABHD11, METTL27, TMEM270, SPDYE10, SPDYE9, SPDYE11, SPDYE8

Overlapped Genes

List of MANE transcripts overlapped by the CNV.

Gene	Overlap (% CDS)	Scores	ClinGen Dosage	Dosage (p)	Top Disease Association
ABHD11 HGNC: 16407	Internal 100% CDS covered	LoF pLI: 1.8944e-8 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.10 Triplo: 0.36	N/A
BAZ1B HGNC: 961	Internal 100% CDS covered	LoF pLI: 1 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.99 Triplo: 1.00	autism spectrum disorder Limited AD
BCL7B HGNC: 1005	Internal 100% CDS covered	LoF pLI: 0.023274 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.14 Triplo: 0.67	N/A
BUD23 HGNC: 16405	Internal 100% CDS covered	LoF pLI: 1.9186e-8 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.20 Triplo: 0.34	N/A
CLDN3 HGNC: 2045	Partial_last_exon 100% CDS covered	LoF pLI: 0.45418 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.54 Triplo: 0.48	N/A
CLDN4 HGNC: 2046	Partial_last_exon 100% CDS covered	LoF pLI: 0.00012783 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.42 Triplo: 0.24	N/A
DNAJC30 HGNC: 16410	Partial_last_exon 100% CDS covered	LoF pLI: 5.877e-7 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.12 Triplo: 0.67	Leber hereditary optic neuropathy, autosomal recessive (+2) Strong AR
EIF4H HGNC: 12741	Five_utr_with_cds 33% CDS covered	LoF pLI: 0.97569 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.66 Triplo: 0.95	N/A
ELN HGNC: 3327	Internal 100% CDS covered	LoF pLI: 7.6169e-10 DECIPHER: N/A	HI: SUFFICIENT_EVIDENCE TS: NO_EVIDENCE_AVAILABLE	Haplo: 0.44 Triplo: 0.63	supravalvular aortic stenosis (+9) Strong AD
FKBP6 HGNC: 3722	Internal 100% CDS covered	LoF pLI: 0.000004027 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.14 Triplo: 0.31	spermatogenic failure 77 Moderate AR
FZD9 HGNC: 4047	Partial_last_exon 100% CDS covered	LoF pLI: 5.927e-11 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.21 Triplo: 0.37	N/A
LIMK1 HGNC: 6613	Internal 100% CDS covered	LoF pLI: 1 DECIPHER: N/A	HI: NO_EVIDENCE_AVAILABLE TS: NO_EVIDENCE_AVAILABLE	Haplo: 0.65 Triplo: 0.95	N/A
METTL27 HGNC: 19068	Internal 100% CDS covered	LoF pLI: 1.7958e-12 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.07 Triplo: 0.19	N/A
MLXIPL HGNC: 12744	Internal 100% CDS covered	LoF pLI: 1.2246e-11 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.61 Triplo: 0.69	N/A
NSUN5 HGNC: 16385	Internal 100% CDS covered	LoF pLI: 1.1452e-10 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.15 Triplo: 0.70	N/A
POM121 HGNC: 19702	Internal 100% CDS covered	LoF pLI: 0.0023151 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.21 Triplo: 0.58	N/A
SPDYE10 HGNC: 51506	Internal 100% CDS covered	LoF pLI: 0.75423 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: N/A Triplo: N/A	N/A
SPDYE11 HGNC: 51507	Internal 100% CDS covered	LoF pLI: N/A DECIPHER: N/A	HI:N/A TS:N/A	Haplo: N/A Triplo: N/A	N/A
SPDYE8 HGNC: 33771	Internal 100% CDS covered	LoF pLI: N/A DECIPHER: N/A	HI:N/A TS:N/A	Haplo: N/A Triplo: N/A	N/A
SPDYE9 HGNC: 45034	Internal 100% CDS covered	LoF pLI: N/A DECIPHER: N/A	HI:N/A TS:N/A	Haplo: N/A Triplo: N/A	N/A
STX1A HGNC: 11433	Internal 100% CDS covered	LoF pLI: 0.99999 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.32 Triplo: 0.56	complex neurodevelopmental disorder (+4) Moderate AD
TBL2 HGNC: 11586	Internal 100% CDS covered	LoF pLI: 1.3839e-9 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.11 Triplo: 0.34	N/A
TMEM270 HGNC: 23018	Internal 100% CDS covered	LoF pLI: 4.1762e-11 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.04 Triplo: 0.05	N/A
TRIM50 HGNC: 19017	Internal 100% CDS covered	LoF pLI: 4.9613e-10 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.39 Triplo: 0.63	N/A
TRIM74 HGNC: 17453	Internal 100% CDS covered	LoF pLI: 0.22661 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.19 Triplo: 0.54	N/A
VPS37D HGNC: 18287	Internal 100% CDS covered	LoF pLI: 0.26283 DECIPHER: N/A	HI:N/A TS:N/A	Haplo: 0.32 Triplo: 0.54	N/A

gnomAD Structural Variants

No gnomAD SVs Found

This CNV does not overlap any gnomad svs.

ClinVar Structural Variants

Type

Size Compatibility

Pathogenicity

Showing 81 of 89

Variation ID	Size	Overlap	Type	Clinical Significance	Position
Variation ID 7:72768821-74869255	Size 2.1 Mb	Overlap Internal 63.9%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:72,768,821-74,869,255
Variation ID 7:72938064-74779028	Size 1.8 Mb	Overlap Partial 67.9%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:72,938,064-74,779,028
Variation ID 7:72930548-74869255	Size 1.9 Mb	Overlap Partial 64.9%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:72,930,548-74,869,255
Variation ID 7:73096542-74727989	Size 1.6 Mb	Overlap Partial 66.9%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,096,542-74,727,989
Variation ID 7:72649515-75361855	Size 2.7 Mb	Overlap Internal 49.5%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:72,649,515-75,361,855
Variation ID 7:73175475-74740268	Size 1.6 Mb	Overlap Partial 64.7%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,175,475-74,740,268
Variation ID 7:73192369-74779057	Size 1.6 Mb	Overlap Partial 62.7%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,192,369-74,779,057
Variation ID 7:73192369-74779057	Size 1.6 Mb	Overlap Partial 62.7%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,192,369-74,779,057
Variation ID 7:73229597-74727852	Size 1.5 Mb	Overlap Partial 64%	Type DEL	Clinical Significance Pathogenic Williams syndrome	Position 7:73,229,597-74,727,852
Variation ID 7:73214501-74773500	Size 1.6 Mb	Overlap Partial 62.4%	Type DEL	Clinical Significance Pathogenic Williams syndrome	Position 7:73,214,501-74,773,500
Variation ID 7:73247356-74727974	Size 1.5 Mb	Overlap Partial 63.5%	Type DUP	Clinical Significance Pathogenic 7q11.23 microduplication syndrome	Position 7:73,247,356-74,727,974
Variation ID 7:73040501-75255046	Size 2.2 Mb	Overlap Partial 51.8%	Type DUP	Clinical Significance Uncertain significance See cases	Position 7:73,040,501-75,255,046
Variation ID 7:73040501-75255046	Size 2.2 Mb	Overlap Partial 51.8%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,040,501-75,255,046
Variation ID 7:73192369-74869255	Size 1.7 Mb	Overlap Partial 59.4%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,192,369-74,869,255
Variation ID 7:73192369-74883978	Size 1.7 Mb	Overlap Partial 58.8%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,192,369-74,883,978
Variation ID 7:73271690-74727989	Size 1.5 Mb	Overlap Partial 62.9%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,271,690-74,727,989
Variation ID 7:73286412-74707848	Size 1.4 Mb	Overlap Partial 63.4%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,286,412-74,707,848
Variation ID 7:73280574-74723034	Size 1.4 Mb	Overlap Partial 62.9%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,280,574-74,723,034
Variation ID 7:73280574-74725240	Size 1.4 Mb	Overlap Partial 62.8%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,280,574-74,725,240
Variation ID 7:73280574-74725240	Size 1.4 Mb	Overlap Partial 62.8%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,280,574-74,725,240
Variation ID 7:73280574-74727918	Size 1.4 Mb	Overlap Partial 62.7%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,280,574-74,727,918
Variation ID 7:73280574-74727989	Size 1.4 Mb	Overlap Partial 62.7%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,280,574-74,727,989
Variation ID 7:73280574-74728722	Size 1.4 Mb	Overlap Partial 62.7%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,280,574-74,728,722
Variation ID 7:73286412-74723034	Size 1.4 Mb	Overlap Partial 62.7%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,286,412-74,723,034
Variation ID 7:73286412-74725240	Size 1.4 Mb	Overlap Partial 62.7%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,286,412-74,725,240
Variation ID 7:73286412-74725240	Size 1.4 Mb	Overlap Partial 62.7%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,286,412-74,725,240
Variation ID 7:73286522-74727156	Size 1.4 Mb	Overlap Partial 62.6%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,286,522-74,727,156
Variation ID 7:73286412-74727989	Size 1.4 Mb	Overlap Partial 62.5%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,286,412-74,727,989
Variation ID 7:73286508-74727852	Size 1.4 Mb	Overlap Partial 62.5%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,286,508-74,727,852
Variation ID 7:73286125-74732517	Size 1.4 Mb	Overlap Partial 62.3%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,286,125-74,732,517
Variation ID 7:73286412-74758583	Size 1.5 Mb	Overlap Partial 61.2%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,286,412-74,758,583
Variation ID 7:73304255-74718954	Size 1.4 Mb	Overlap Partial 62.5%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,304,255-74,718,954
Variation ID 7:73280574-74779057	Size 1.5 Mb	Overlap Partial 60.5%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,280,574-74,779,057
Variation ID 7:73304277-74727414	Size 1.4 Mb	Overlap Partial 62.1%	Type DEL	Clinical Significance Pathogenic Williams syndrome	Position 7:73,304,277-74,727,414
Variation ID 7:73304280-74727852	Size 1.4 Mb	Overlap Partial 62.1%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,304,280-74,727,852
Variation ID 7:73303398-74735532	Size 1.4 Mb	Overlap Partial 61.8%	Type DEL	Clinical Significance Likely pathogenic Williams syndrome	Position 7:73,303,398-74,735,532
Variation ID 7:73280574-74789341	Size 1.5 Mb	Overlap Partial 60.1%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,280,574-74,789,341
Variation ID 7:73286412-74779057	Size 1.5 Mb	Overlap Partial 60.4%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,286,412-74,779,057
Variation ID 7:73312575-74723034	Size 1.4 Mb	Overlap Partial 62.1%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,312,575-74,723,034
Variation ID 7:73312582-74725057	Size 1.4 Mb	Overlap Partial 62%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,312,582-74,725,057
Variation ID 7:73312644-74726596	Size 1.4 Mb	Overlap Partial 61.9%	Type DUP	Clinical Significance Pathogenic Schizophrenia	Position 7:73,312,644-74,726,596
Variation ID 7:73323103-74726596	Size 1.4 Mb	Overlap Partial 61.6%	Type DUP	Clinical Significance Pathogenic Autism	Position 7:73,323,103-74,726,596
Variation ID 7:73280574-74839100	Size 1.6 Mb	Overlap Partial 58.2%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,280,574-74,839,100
Variation ID 7:73330453-74728172	Size 1.4 Mb	Overlap Partial 61.3%	Type DEL	Clinical Significance Pathogenic not provided	Position 7:73,330,453-74,728,172
Variation ID 7:73302466-74798315	Size 1.5 Mb	Overlap Partial 59.2%	Type DEL	Clinical Significance Pathogenic not provided	Position 7:73,302,466-74,798,315
Variation ID 7:73286412-74869255	Size 1.6 Mb	Overlap Partial 57%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,286,412-74,869,255
Variation ID 7:73352104-74719154	Size 1.4 Mb	Overlap Partial 61.1%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,352,104-74,719,154
Variation ID 7:73352104-74719154	Size 1.4 Mb	Overlap Partial 61.1%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,352,104-74,719,154
Variation ID 7:73352303-74719008	Size 1.4 Mb	Overlap Partial 61.1%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,352,303-74,719,008
Variation ID 7:73352303-74719008	Size 1.4 Mb	Overlap Partial 61.1%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,352,303-74,719,008
Variation ID 7:73352304-74719013	Size 1.4 Mb	Overlap Partial 61.1%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,352,304-74,719,013
Variation ID 7:73352304-74719013	Size 1.4 Mb	Overlap Partial 61.1%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,352,304-74,719,013
Variation ID 7:73352304-74719013	Size 1.4 Mb	Overlap Partial 61.1%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,352,304-74,719,013
Variation ID 7:73352304-74719013	Size 1.4 Mb	Overlap Partial 61.1%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,352,304-74,719,013
Variation ID 7:73280574-74924007	Size 1.6 Mb	Overlap Partial 55.2%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,280,574-74,924,007
Variation ID 7:73352303-74779051	Size 1.4 Mb	Overlap Partial 58.6%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,352,303-74,779,051
Variation ID 7:73352304-74869255	Size 1.5 Mb	Overlap Partial 55.1%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,352,304-74,869,255
Variation ID 7:73352303-74924023	Size 1.6 Mb	Overlap Partial 53.2%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,352,303-74,924,023
Variation ID 7:73352304-74924037	Size 1.6 Mb	Overlap Partial 53.2%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,352,304-74,924,037
Variation ID 7:73352304-74924037	Size 1.6 Mb	Overlap Partial 53.2%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,352,304-74,924,037
Variation ID 7:73352304-75065728	Size 1.7 Mb	Overlap Partial 48.8%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:73,352,304-75,065,728
Variation ID 7:73755813-74133404	Size 377.6 kb	Overlap Full 100%	Type DUP	Clinical Significance Uncertain significance See cases	Position 7:73,755,813-74,133,404
Variation ID 7:73755831-74131326	Size 375.5 kb	Overlap Full 100%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,755,831-74,131,326
Variation ID 7:73614671-73942928	Size 328.3 kb	Overlap Full 100%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,614,671-73,942,928
Variation ID 7:71461127-73614730	Size 2.2 Mb	Overlap Partial 35.7%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:71,461,127-73,614,730
Variation ID 7:73286412-73556222	Size 269.8 kb	Overlap Full 100%	Type DEL	Clinical Significance Uncertain significance See cases	Position 7:73,286,412-73,556,222
Variation ID 7:72179092-79164071	Size 7.0 Mb	Overlap Internal 19.2%	Type DUP	Clinical Significance Likely pathogenic See cases	Position 7:72,179,092-79,164,071
Variation ID 7:69382353-77823832	Size 8.4 Mb	Overlap Internal 15.9%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:69,382,353-77,823,832
Variation ID 7:73352304-76722261	Size 3.4 Mb	Overlap Partial 24.8%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,352,304-76,722,261
Variation ID 7:71478043-73444574	Size 2.0 Mb	Overlap Partial 30.4%	Type DEL	Clinical Significance Uncertain significance See cases	Position 7:71,478,043-73,444,574
Variation ID 7:71225344-81735657	Size 10.5 Mb	Overlap Internal 12.8%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:71,225,344-81,735,657
Variation ID 7:68668307-73710276	Size 5.0 Mb	Overlap Partial 17.1%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:68,668,307-73,710,276
Variation ID 7:62977085-75415352	Size 12.4 Mb	Overlap Internal 10.8%	Type DUP	Clinical Significance Pathogenic See cases	Position 7:62,977,085-75,415,352
Variation ID 7:62736364-75432710	Size 12.7 Mb	Overlap Internal 10.6%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:62,736,364-75,432,710
Variation ID 7:74047652-74924037	Size 876.4 kb	Overlap Partial 16%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:74,047,652-74,924,037
Variation ID 7:74053426-75069953	Size 1.0 Mb	Overlap Partial 13.2%	Type DUP	Clinical Significance Likely benign See cases	Position 7:74,053,426-75,069,953
Variation ID 7:73873420-83988860	Size 10.1 Mb	Overlap Partial 3.1%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:73,873,420-83,988,860
Variation ID 7:71148562-72895414	Size 1.7 Mb	Overlap Partial 2.8%	Type DEL	Clinical Significance Uncertain significance See cases	Position 7:71,148,562-72,895,414
Variation ID 7:74163876-74593260	Size 429.4 kb	Overlap Partial 5.6%	Type DUP	Clinical Significance Uncertain significance See cases	Position 7:74,163,876-74,593,260
Variation ID 7:74177663-74718954	Size 541.3 kb	Overlap Partial 1.9%	Type DEL	Clinical Significance Uncertain significance See cases	Position 7:74,177,663-74,718,954
Variation ID 7:74176025-75361855	Size 1.2 Mb	Overlap Partial 1%	Type DEL	Clinical Significance Pathogenic See cases	Position 7:74,176,025-75,361,855

ClinGen Recurrent CNVs

Type

Size Compatibility

Showing 3 of 5

Region Name	Size	Overlap	Type	Position
Region Name 7q11.23_recurrent_(Williams-Beuren_syndrome)_region_(includes_ELN)	Size 1.4 Mb	Overlap Partial 61.3%	TypeN/A	Position 7:73,330,452-74,728,172
Region Name LCR-A_cen	Size 160.2 kb	Overlap Full 100%	TypeN/A	Position 7:72,993,774-73,153,979
Region Name LCR-C_cen	Size 134.5 kb	Overlap Full 100%	TypeN/A	Position 7:72,859,312-72,993,773

ClinGen Dosage Sensitivity Regions

Type

Size Compatibility

Showing 1 of 1

Region ID	Size	Overlap	Type	Dosage Sensitivity	Position
Region ID 7:73330452-74728172	Size 1.4 Mb	Overlap Partial 61.3%	TypeN/A	Dosage Sensitivity HI: SUFFICIENT_EVIDENCE TS: SUFFICIENT_EVIDENCE	Position 7:73,330,452-74,728,172

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CNV summary

Genes

ClinGen

ACMG Results ?

Criteria:

gnomAD Structural Variants

No gnomAD SVs Found

ClinVar Structural Variants

ClinGen Recurrent CNVs

ClinGen Dosage Sensitivity Regions

ACMG Results