GeneBe

7:72846244-74187855 DUP

CNV summary

Our verdict is Uncertain significance. Variant got ACMG score 0.

CNV gain 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 TS region(s): dbVar:nssv15119921. However, all these regions lay inside a transcript, the mechanism of pathogenicity is that they probably break it. There are partially covered regions: DUP dbVar:nssv15154518 7:73,287,016-74,728,902 partially (0.6247643711083956) covered by ROI (7:73,287,016-74,728,902) is considered Pathogenic (and 53 more), but no TS genes affected. There are 26 protein coding genes across 21 gene families: LIMK1, ELN, BAZ1B, EIF4H, NSUN5, MLXIPL, DNAJC30, BCL7B, TRIM50, POM121 (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: Uncertain_significance

Score: 0

Criteria:

  • GAIN_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.
  • GAIN_2A Beware, not met
    Rule (not met) : Complete overlap; the known pathogenic gain SV is fully contained within the observed copy-number gain.
    Details:
    There is complete overlap with established TS region(s): dbVar:nssv15119921. However, all these regions lay inside a transcript, the mechanism of pathogenicity is that they probably break it.
  • GAIN_2B Beware, not met
    Rule (not met) : Partial overlap of a known pathogenic gain SV: The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
    Details:
    [DUP dbVar:nssv15154518 7:73,287,016-74,728,902 partially (0.6247643711083956) covered by ROI (7:73,287,016-74,728,902) is considered Pathogenic , DUP dbVar:nssv15150733 7:73,286,522-74,727,918 partially (0.6253194819466684) covered by ROI (7:73,286,522-74,727,918) is considered Pathogenic , DUP dbVar:nssv15168014 7:44,935-159,333,620 which contains ROI (7:44,935-159,333,620) is considered Pathogenic , DUP dbVar:nssv15146449 7:73,286,412-74,725,240 partially (0.6265119944843998) covered by ROI (7:73,286,412-74,725,240) is considered Pathogenic , DUP dbVar:nssv15168013 7:10,704-159,329,842 which contains ROI (7:10,704-159,329,842) is considered Pathogenic , DUP dbVar:nssv15126184 7:73,271,719-74,775,327 partially (0.6092917834967625) covered by ROI (7:73,271,719-74,775,327) is considered Pathogenic , DUP dbVar:nssv15147714 7:72,503,227-74,719,013 which contains ROI (7:72,503,227-74,719,013) is considered Pathogenic , DUP dbVar:nssv15151509 7:73,166,840-74,761,099 partially (0.640432326240592) covered by ROI (7:73,166,840-74,761,099) is considered Pathogenic , DUP dbVar:nssv15149513 7:73,263,132-74,728,802 partially (0.6309216945151365) covered by ROI (7:73,263,132-74,728,802) is considered Pathogenic , DUP dbVar:nssv15146778 7:72,179,092-79,164,071 which contains ROI (7:72,179,092-79,164,071) is considered Pathogenic , DUP dbVar:nssv15146395 7:73,280,574-74,839,100 partially (0.5821404326908887) covered by ROI (7:73,280,574-74,839,100) is considered Pathogenic , DUP dbVar:nssv15147013 7:72,768,821-74,869,255 which contains ROI (7:72,768,821-74,869,255) is considered Pathogenic , DUP dbVar:nssv15152109 7:73,166,840-74,783,503 partially (0.6315571025006449) covered by ROI (7:73,166,840-74,783,503) is considered Pathogenic , DUP dbVar:nssv15147334 7:72,938,064-74,779,028 partially (0.678878565794877) covered by ROI (7:72,938,064-74,779,028) is considered Pathogenic , DUP dbVar:nssv15146175;nssv15148276 7:73,352,304-74,719,013 partially (0.61135984324388) covered by ROI (7:73,352,304-74,719,013) is considered Pathogenic , DUP dbVar:nssv15151508 7:73,286,522-74,655,531 partially (0.6583835460541165) covered by ROI (7:73,286,522-74,655,531) is considered Pathogenic , DUP dbVar:nssv15167739 7:73,329,980-74,730,726 partially (0.6124415133079087) covered by ROI (7:73,329,980-74,730,726) is considered Pathogenic , DUP dbVar:nssv15148970 7:73,352,304-75,065,728 partially (0.4876498753373362) covered by ROI (7:73,352,304-75,065,728) is considered Pathogenic , DUP dbVar:nssv15160831 7:73,323,103-74,726,596 partially (0.6161427239038598) covered by ROI (7:73,323,103-74,726,596) is considered Pathogenic , DUP dbVar:nssv16254014 7:73,245,641-74,750,557 partially (0.6260907585539658) covered by ROI (7:73,245,641-74,750,557) is considered Pathogenic , DUP dbVar:nssv15146396 7:73,312,575-74,723,034 partially (0.6205639440777789) covered by ROI (7:73,312,575-74,723,034) is considered Pathogenic , DUP dbVar:nssv15147458 7:73,280,574-74,727,989 partially (0.6268285184276797) covered by ROI (7:73,280,574-74,727,989) is considered Pathogenic , DUP dbVar:nssv15154519 7:73,166,840-74,732,825 partially (0.6519953894832965) covered by ROI (7:73,166,840-74,732,825) is considered Pathogenic , DUP dbVar:nssv15146741 7:73,040,501-75,255,046 partially (0.5180992032223324) covered by ROI (7:73,040,501-75,255,046) is considered Pathogenic , DUP dbVar:nssv15146933 7:73,304,281-74,726,374 partially (0.6213194214443077) covered by ROI (7:73,304,281-74,726,374) is considered Pathogenic , DUP dbVar:nssv15150793 7:73,245,641-74,728,902 partially (0.6352314258920042) covered by ROI (7:73,245,641-74,728,902) is considered Pathogenic , DUP dbVar:nssv15777247 7:10,365-159,327,017 which contains ROI (7:10,365-159,327,017) is considered Pathogenic , DUP dbVar:nssv15174166 7:73,192,410-74,738,864 partially (0.6436951891229872) covered by ROI (7:73,192,410-74,738,864) is considered Pathogenic , DUP dbVar:nssv15148173 7:73,175,475-74,740,268 partially (0.6469737530778832) covered by ROI (7:73,175,475-74,740,268) is considered Pathogenic , DUP dbVar:nssv15149887 7:73,175,475-74,751,069 partially (0.6425386235286501) covered by ROI (7:73,175,475-74,751,069) is considered Pathogenic , DUP dbVar:nssv15148877 7:73,280,574-74,779,057 partially (0.6054663282800005) covered by ROI (7:73,280,574-74,779,057) is considered Pathogenic , DUP dbVar:nssv15147399 7:73,192,369-74,779,057 partially (0.6273987072442724) covered by ROI (7:73,192,369-74,779,057) is considered Pathogenic , DUP dbVar:nssv15148904 7:73,192,369-74,883,978 partially (0.5884846912022814) covered by ROI (7:73,192,369-74,883,978) is considered Pathogenic , DUP dbVar:nssv15159763 7:73,312,644-74,726,596 partially (0.618982115375911) covered by ROI (7:73,312,644-74,726,596) is considered Pathogenic , DUP dbVar:nssv15147012 7:72,649,515-75,361,855 which contains ROI (7:72,649,515-75,361,855) is considered Pathogenic , DUP dbVar:nssv15146013 7:62,977,085-75,415,352 which contains ROI (7:62,977,085-75,415,352) is considered Pathogenic , DUP dbVar:nssv15153678 7:73,166,840-75,274,941 partially (0.4843292612640476) covered by ROI (7:73,166,840-75,274,941) is considered Pathogenic , DUP dbVar:nssv16215249 7:73,308,984-74,727,502 partially (0.6195698609393747) covered by ROI (7:73,308,984-74,727,502) is considered Pathogenic , DUP dbVar:nssv15161666;nssv15161679 7:43,361-159,327,017 which contains ROI (7:43,361-159,327,017) is considered Pathogenic , DUP dbVar:nssv15146773 7:73,280,574-74,728,722 partially (0.6265112405638098) covered by ROI (7:73,280,574-74,728,722) is considered Pathogenic , DUP dbVar:nssv17976854 7:73,272,914-74,740,732 partially (0.6233340918288235) covered by ROI (7:73,272,914-74,740,732) is considered Pathogenic , DUP dbVar:nssv18830985 7:73,250,429-74,748,249 partially (0.6258602502303348) covered by ROI (7:73,250,429-74,748,249) is considered Pathogenic , DUP dbVar:nssv17976654 7:73,352,304-74,628,471 partially (0.6547348426969197) covered by ROI (7:73,352,304-74,628,471) is considered Pathogenic , DUP dbVar:nssv15755212 7:72,893,987-74,365,935 partially (0.8790174652908934) covered by ROI (7:72,893,987-74,365,935) is considered Pathogenic , DUP dbVar:nssv17955880 7:73,303,348-74,718,991 partially (0.6248093622474028) covered by ROI (7:73,303,348-74,718,991) is considered Pathogenic , DUP dbVar:nssv15146450 7:73,352,104-74,719,154 partially (0.6113536447094108) covered by ROI (7:73,352,104-74,719,154) is considered Pathogenic , DUP dbVar:nssv15147327 7:73,352,303-74,719,008 partially (0.6113623642263692) covered by ROI (7:73,352,303-74,719,008) is considered Pathogenic , DUP dbVar:nssv15147556 7:73,286,125-74,732,517 partially (0.6234340344802792) covered by ROI (7:73,286,125-74,732,517) is considered Pathogenic , DUP dbVar:nssv15147014;nssv15147017 7:73,280,574-74,725,240 partially (0.6280212865811198) covered by ROI (7:73,280,574-74,725,240) is considered Pathogenic , DUP dbVar:nssv15128409 7:73,235,973-74,774,225 partially (0.618807581592613) covered by ROI (7:73,235,973-74,774,225) is considered Pathogenic , DUP dbVar:nssv18830970 7:73,304,280-74,727,918 partially (0.6206458383381168) covered by ROI (7:73,304,280-74,727,918) is considered Pathogenic , DUP dbVar:nssv15150228 7:73,278,089-74,740,162 partially (0.6222438961666072) covered by ROI (7:73,278,089-74,740,162) is considered Pathogenic , DUP TS3:ISCA-37392 7:73,330,452-74,728,172 partially (0.613429728414847) covered by ROI (7:73,330,452-74,728,172) is considered Pathogenic , DUP dbVar:nssv15151227 7:73,263,260-74,728,902 partially (0.6308464140629158) covered by ROI (7:73,263,260-74,728,902) is considered Pathogenic ]
  • GAIN_2D Beware, not met
    Rule (not met) : Smaller than established benign copy-number gain, breakpoint(s) does not interrupt protein-coding genes.
    Details:
    Breakpoint probably does interrupt genes POM121, TRIM74, SPDYE8, SPDYE11, SPDYE9, SPDYE10, NSUN5, TRIM50, FKBP6, FZD9, BAZ1B, BCL7B, TBL2, MLXIPL, VPS37D, DNAJC30, BUD23, STX1A, ABHD11, CLDN3, CLDN4, METTL27, TMEM270, ELN, LIMK1, EIF4H
  • GAIN_2E : 0 points
    Rule : Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
    Details:
    Contained in established TS region DDD:24479, dbVar, dbVar, DDD:24478, 1000g, dbVar, probably breaking POM121, TRIM74, SPDYE8, SPDYE11, SPDYE9, SPDYE10, NSUN5, TRIM50, FKBP6, FZD9, BAZ1B, BCL7B, TBL2, MLXIPL, VPS37D, DNAJC30, BUD23, STX1A, ABHD11, CLDN3, CLDN4, METTL27, TMEM270, ELN, LIMK1, EIF4H
  • GAIN_3A : 0 points
    Rule : 0–34 genes
    Details:
    There are 26 protein coding genes across 21 gene families: LIMK1, ELN, BAZ1B, EIF4H, NSUN5, MLXIPL, DNAJC30, BCL7B, TRIM50, POM121, STX1A, TRIM74, VPS37D, CLDN3, FZD9, ABHD11, TBL2, BUD23, FKBP6, CLDN4, METTL27, TMEM270, SPDYE10, SPDYE9, SPDYE11, SPDYE8

Overlapped Genes

List of MANE transcripts overlapped by the CNV.
GeneOverlap (% CDS)
Scores
ClinGen Dosage
Dosage (p)
Top Disease Association
ABHD11
HGNC: 16407
Internal
100% CDS covered
LoF pLI: 1.8683e-8
DECIPHER: 0.7655
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: 0.2374
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: 0.023124
DECIPHER: 0.2863
HI:N/A
TS:N/A
Haplo: 0.14
Triplo: 0.67
N/A
BUD23
HGNC: 16405
Internal
100% CDS covered
LoF pLI: 1.8804e-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: 0.45321
DECIPHER: 0.3346
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: 0.00012713
DECIPHER: 0.2372
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: 5.8209e-7
DECIPHER: 0.8016
HI:N/A
TS:N/A
Haplo: 0.12
Triplo: 0.67
Leber hereditary optic neuropathy (+2)
Supportive Mitochondrial
EIF4H
HGNC: 12741
Five_utr_with_cds
33% CDS covered
LoF pLI: 0.97545
DECIPHER: 0.2178
HI:N/A
TS:N/A
Haplo: 0.66
Triplo: 0.95
N/A
ELN
HGNC: 3327
Internal
100% CDS covered
LoF pLI: 7.2698e-10
DECIPHER: 0.0862
HI: SUFFICIENT_EVIDENCE
TS: NO_EVIDENCE_AVAILABLE
Haplo: 0.44
Triplo: 0.63
cutis laxa, autosomal dominant 1 (+9)
Strong AD
FKBP6
HGNC: 3722
Internal
100% CDS covered
LoF pLI: 0.0000039823
DECIPHER: 0.6569
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: 5.8105e-11
DECIPHER: 0.4695
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: 0.1966
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: 1.7608e-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: 1.1896e-11
DECIPHER: 0.3645
HI:N/A
TS:N/A
Haplo: 0.61
Triplo: 0.69
N/A
NSUN5
HGNC: 16385
Internal
100% CDS covered
LoF pLI: 1.1208e-10
DECIPHER: 0.7014
HI:N/A
TS:N/A
Haplo: 0.15
Triplo: 0.70
N/A
POM121
HGNC: 19702
Internal
100% CDS covered
LoF pLI: 0.0022511
DECIPHER: 0.8675
HI:N/A
TS:N/A
Haplo: 0.21
Triplo: 0.58
N/A
SPDYE10
HGNC: 51506
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
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: 0.2282
HI:N/A
TS:N/A
Haplo: 0.32
Triplo: 0.56
cystic fibrosis (+2)
Supportive AR
TBL2
HGNC: 11586
Internal
100% CDS covered
LoF pLI: 1.3589e-9
DECIPHER: 0.3081
HI:N/A
TS:N/A
Haplo: 0.11
Triplo: 0.34
N/A
TMEM270
HGNC: 23018
Internal
100% CDS covered
LoF pLI: 4.0928e-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: 4.8695e-10
DECIPHER: 0.5555
HI:N/A
TS:N/A
Haplo: 0.39
Triplo: 0.63
N/A
TRIM74
HGNC: 17453
Internal
100% CDS covered
LoF pLI: 0.22669
DECIPHER: 0.8314
HI:N/A
TS:N/A
Haplo: 0.19
Triplo: 0.54
N/A
VPS37D
HGNC: 18287
Internal
100% CDS covered
LoF pLI: 0.26255
DECIPHER: 0.6411
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

Variation IDSizeOverlapTypeClinical SignificancePosition
7:72768821-74869255
2.1 Mb
Internal
63.9%
DUP
Pathogenic
See cases
7:72,768,821-74,869,255
7:72938064-74779028
1.8 Mb
Partial
67.9%
DUP
Pathogenic
See cases
7:72,938,064-74,779,028
7:72930548-74869255
1.9 Mb
Partial
64.9%
DEL
Pathogenic
See cases
7:72,930,548-74,869,255
7:73096542-74727989
1.6 Mb
Partial
66.9%
DEL
Pathogenic
See cases
7:73,096,542-74,727,989
7:72649515-75361855
2.7 Mb
Internal
49.5%
DUP
Pathogenic
See cases
7:72,649,515-75,361,855
7:73175475-74740268
1.6 Mb
Partial
64.7%
DUP
Pathogenic
See cases
7:73,175,475-74,740,268
7:73192369-74779057
1.6 Mb
Partial
62.7%
DUP
Pathogenic
See cases
7:73,192,369-74,779,057
7:73192369-74779057
1.6 Mb
Partial
62.7%
DEL
Pathogenic
See cases
7:73,192,369-74,779,057
7:73229597-74727852
1.5 Mb
Partial
64%
DEL
Pathogenic
Williams syndrome
7:73,229,597-74,727,852
7:73214501-74773500
1.6 Mb
Partial
62.4%
DEL
Pathogenic
Williams syndrome
7:73,214,501-74,773,500
7:73247356-74727974
1.5 Mb
Partial
63.5%
DUP
Pathogenic
7q11.23 microduplication syndrome
7:73,247,356-74,727,974
7:73040501-75255046
2.2 Mb
Partial
51.8%
DUP
Uncertain significance
See cases
7:73,040,501-75,255,046
7:73040501-75255046
2.2 Mb
Partial
51.8%
DUP
Pathogenic
See cases
7:73,040,501-75,255,046
7:73192369-74869255
1.7 Mb
Partial
59.4%
DEL
Pathogenic
See cases
7:73,192,369-74,869,255
7:73192369-74883978
1.7 Mb
Partial
58.8%
DUP
Pathogenic
See cases
7:73,192,369-74,883,978
7:73271690-74727989
1.5 Mb
Partial
62.9%
DEL
Pathogenic
See cases
7:73,271,690-74,727,989
7:73286412-74707848
1.4 Mb
Partial
63.4%
DEL
Pathogenic
See cases
7:73,286,412-74,707,848
7:73280574-74723034
1.4 Mb
Partial
62.9%
DEL
Pathogenic
See cases
7:73,280,574-74,723,034
7:73280574-74725240
1.4 Mb
Partial
62.8%
DUP
Pathogenic
See cases
7:73,280,574-74,725,240
7:73280574-74725240
1.4 Mb
Partial
62.8%
DUP
Pathogenic
See cases
7:73,280,574-74,725,240
7:73280574-74727918
1.4 Mb
Partial
62.7%
DEL
Pathogenic
See cases
7:73,280,574-74,727,918
7:73280574-74727989
1.4 Mb
Partial
62.7%
DUP
Pathogenic
See cases
7:73,280,574-74,727,989
7:73280574-74728722
1.4 Mb
Partial
62.7%
DUP
Pathogenic
See cases
7:73,280,574-74,728,722
7:73286412-74723034
1.4 Mb
Partial
62.7%
DEL
Pathogenic
See cases
7:73,286,412-74,723,034
7:73286412-74725240
1.4 Mb
Partial
62.7%
DUP
Pathogenic
See cases
7:73,286,412-74,725,240
7:73286412-74725240
1.4 Mb
Partial
62.7%
DEL
Pathogenic
See cases
7:73,286,412-74,725,240
7:73286522-74727156
1.4 Mb
Partial
62.6%
DEL
Pathogenic
See cases
7:73,286,522-74,727,156
7:73286412-74727989
1.4 Mb
Partial
62.5%
DEL
Pathogenic
See cases
7:73,286,412-74,727,989
7:73286508-74727852
1.4 Mb
Partial
62.5%
DEL
Pathogenic
See cases
7:73,286,508-74,727,852
7:73286125-74732517
1.4 Mb
Partial
62.3%
DUP
Pathogenic
See cases
7:73,286,125-74,732,517
7:73286412-74758583
1.5 Mb
Partial
61.2%
DEL
Pathogenic
See cases
7:73,286,412-74,758,583
7:73304255-74718954
1.4 Mb
Partial
62.5%
DEL
Pathogenic
See cases
7:73,304,255-74,718,954
7:73280574-74779057
1.5 Mb
Partial
60.5%
DUP
Pathogenic
See cases
7:73,280,574-74,779,057
7:73304277-74727414
1.4 Mb
Partial
62.1%
DEL
Pathogenic
Williams syndrome
7:73,304,277-74,727,414
7:73304280-74727852
1.4 Mb
Partial
62.1%
DEL
Pathogenic
See cases
7:73,304,280-74,727,852
7:73303398-74735532
1.4 Mb
Partial
61.8%
DEL
Likely pathogenic
Williams syndrome
7:73,303,398-74,735,532
7:73280574-74789341
1.5 Mb
Partial
60.1%
DEL
Pathogenic
See cases
7:73,280,574-74,789,341
7:73286412-74779057
1.5 Mb
Partial
60.4%
DEL
Pathogenic
See cases
7:73,286,412-74,779,057
7:73312575-74723034
1.4 Mb
Partial
62.1%
DUP
Pathogenic
See cases
7:73,312,575-74,723,034
7:73312582-74725057
1.4 Mb
Partial
62%
DEL
Pathogenic
See cases
7:73,312,582-74,725,057
7:73312644-74726596
1.4 Mb
Partial
61.9%
DUP
Pathogenic
Schizophrenia
7:73,312,644-74,726,596
7:73323103-74726596
1.4 Mb
Partial
61.6%
DUP
Pathogenic
Autism
7:73,323,103-74,726,596
7:73280574-74839100
1.6 Mb
Partial
58.2%
DUP
Pathogenic
See cases
7:73,280,574-74,839,100
7:73330453-74728172
1.4 Mb
Partial
61.3%
DEL
Pathogenic
not provided
7:73,330,453-74,728,172
7:73302466-74798315
1.5 Mb
Partial
59.2%
DEL
Pathogenic
not provided
7:73,302,466-74,798,315
7:73286412-74869255
1.6 Mb
Partial
57%
DEL
Pathogenic
See cases
7:73,286,412-74,869,255
7:73352104-74719154
1.4 Mb
Partial
61.1%
DUP
Pathogenic
See cases
7:73,352,104-74,719,154
7:73352104-74719154
1.4 Mb
Partial
61.1%
DEL
Pathogenic
See cases
7:73,352,104-74,719,154
7:73352303-74719008
1.4 Mb
Partial
61.1%
DUP
Pathogenic
See cases
7:73,352,303-74,719,008
7:73352303-74719008
1.4 Mb
Partial
61.1%
DEL
Pathogenic
See cases
7:73,352,303-74,719,008
7:73352304-74719013
1.4 Mb
Partial
61.1%
DUP
Pathogenic
See cases
7:73,352,304-74,719,013
7:73352304-74719013
1.4 Mb
Partial
61.1%
DEL
Pathogenic
See cases
7:73,352,304-74,719,013
7:73352304-74719013
1.4 Mb
Partial
61.1%
DUP
Pathogenic
See cases
7:73,352,304-74,719,013
7:73352304-74719013
1.4 Mb
Partial
61.1%
DEL
Pathogenic
See cases
7:73,352,304-74,719,013
7:73280574-74924007
1.6 Mb
Partial
55.2%
DEL
Pathogenic
See cases
7:73,280,574-74,924,007
7:73352303-74779051
1.4 Mb
Partial
58.6%
DEL
Pathogenic
See cases
7:73,352,303-74,779,051
7:73352304-74869255
1.5 Mb
Partial
55.1%
DEL
Pathogenic
See cases
7:73,352,304-74,869,255
7:73352303-74924023
1.6 Mb
Partial
53.2%
DEL
Pathogenic
See cases
7:73,352,303-74,924,023
7:73352304-74924037
1.6 Mb
Partial
53.2%
DEL
Pathogenic
See cases
7:73,352,304-74,924,037
7:73352304-74924037
1.6 Mb
Partial
53.2%
DEL
Pathogenic
See cases
7:73,352,304-74,924,037
7:73352304-75065728
1.7 Mb
Partial
48.8%
DUP
Pathogenic
See cases
7:73,352,304-75,065,728
7:73755813-74133404
377.6 kb
Full
100%
DUP
Uncertain significance
See cases
7:73,755,813-74,133,404
7:73755831-74131326
375.5 kb
Full
100%
DEL
Pathogenic
See cases
7:73,755,831-74,131,326
7:73614671-73942928
328.3 kb
Full
100%
DEL
Pathogenic
See cases
7:73,614,671-73,942,928
7:71461127-73614730
2.2 Mb
Partial
35.7%
DEL
Pathogenic
See cases
7:71,461,127-73,614,730
7:73286412-73556222
269.8 kb
Full
100%
DEL
Uncertain significance
See cases
7:73,286,412-73,556,222
7:72179092-79164071
7.0 Mb
Internal
19.2%
DUP
Likely pathogenic
See cases
7:72,179,092-79,164,071
7:69382353-77823832
8.4 Mb
Internal
15.9%
DEL
Pathogenic
See cases
7:69,382,353-77,823,832
7:73352304-76722261
3.4 Mb
Partial
24.8%
DEL
Pathogenic
See cases
7:73,352,304-76,722,261
7:71478043-73444574
2.0 Mb
Partial
30.4%
DEL
Uncertain significance
See cases
7:71,478,043-73,444,574
7:71225344-81735657
10.5 Mb
Internal
12.8%
DEL
Pathogenic
See cases
7:71,225,344-81,735,657
7:68668307-73710276
5.0 Mb
Partial
17.1%
DEL
Pathogenic
See cases
7:68,668,307-73,710,276
7:62977085-75415352
12.4 Mb
Internal
10.8%
DUP
Pathogenic
See cases
7:62,977,085-75,415,352
7:62736364-75432710
12.7 Mb
Internal
10.6%
DEL
Pathogenic
See cases
7:62,736,364-75,432,710
7:74035454-74133404
98.0 kb
Full
100%
DUP
Pathogenic
See cases
7:74,035,454-74,133,404
7:74031409-74104712
73.3 kb
Full
100%
DUP
Likely benign
See cases
7:74,031,409-74,104,712
7:74035344-74068720
33.4 kb
Full
100%
DEL
Pathogenic
Supravalvar aortic stenosis
7:74,035,344-74,068,720
7:74030000-74062163
32.2 kb
Full
100%
DEL
Pathogenic
Supravalvar aortic stenosis
7:74,030,000-74,062,163
7:73324677-73352304
27.6 kb
Full
100%
DUP
Benign
See cases
7:73,324,677-73,352,304
7:74047652-74924037
876.4 kb
Partial
16%
DEL
Pathogenic
See cases
7:74,047,652-74,924,037
7:74053426-75069953
1.0 Mb
Partial
13.2%
DUP
Likely benign
See cases
7:74,053,426-75,069,953
7:54185-159282390
159.2 Mb
Internal
0.8%
DEL
Pathogenic
See cases
7:54,185-159,282,390
7:73873420-83988860
10.1 Mb
Partial
3.1%
DEL
Pathogenic
See cases
7:73,873,420-83,988,860
7:71148562-72895414
1.7 Mb
Partial
2.8%
DEL
Uncertain significance
See cases
7:71,148,562-72,895,414
7:74163876-74593260
429.4 kb
Partial
5.6%
DUP
Uncertain significance
See cases
7:74,163,876-74,593,260
7:74177663-74718954
541.3 kb
Partial
1.9%
DEL
Uncertain significance
See cases
7:74,177,663-74,718,954
7:74176025-75361855
1.2 Mb
Partial
1%
DEL
Pathogenic
See cases
7:74,176,025-75,361,855
7:74068647-74068710
63 bp
Full
100%
DEL
Likely pathogenic
Supravalvar aortic stenosis
7:74,068,647-74,068,710
7:74059907-74059960
53 bp
Full
100%
DEL
Benign/Likely benign
not provided|Supravalvar aortic stenosis
7:74,059,907-74,059,960

ClinGen Recurrent CNVs

Region NameSizeOverlapTypePosition
7q11.23_recurrent_(Williams-Beuren_syndrome)_region_(includes_ELN)
1.4 Mb
Partial
61.3%
N/A
7:73,330,452-74,728,172
LCR-A_cen
160.2 kb
Full
100%
N/A
7:72,993,774-73,153,979
LCR-C_cen
134.5 kb
Full
100%
N/A
7:72,859,312-72,993,773
LCR-B_cen
121.0 kb
Full
100%
N/A
7:73,153,980-73,275,011
LCR-C_mid
64.0 kb
Full
100%
N/A
7:73,295,064-73,359,055

ClinGen Dosage Sensitivity Regions

Region IDSizeOverlapTypeDosage SensitivityPosition
7:73330452-74728172
1.4 Mb
Partial
61.3%
N/A
HI: SUFFICIENT_EVIDENCE
TS: SUFFICIENT_EVIDENCE
7:73,330,452-74,728,172

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