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GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1 AND Multiple congenital anomalies/dysmorphic syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003327701.1

Allele description

GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1

Genes:
  • LOC129998852:ATAC-STARR-seq lymphoblastoid active region 26308 [Gene]
  • LOC129998854:ATAC-STARR-seq lymphoblastoid active region 26309 [Gene]
  • LOC129998856:ATAC-STARR-seq lymphoblastoid active region 26310 [Gene]
  • LOC129998859:ATAC-STARR-seq lymphoblastoid active region 26311 [Gene]
  • LOC129998868:ATAC-STARR-seq lymphoblastoid active region 26312 [Gene]
  • LOC129998869:ATAC-STARR-seq lymphoblastoid active region 26313 [Gene]
  • LOC129998871:ATAC-STARR-seq lymphoblastoid active region 26314 [Gene]
  • LOC129998873:ATAC-STARR-seq lymphoblastoid active region 26315 [Gene]
  • LOC129998875:ATAC-STARR-seq lymphoblastoid active region 26317 [Gene]
  • LOC129998876:ATAC-STARR-seq lymphoblastoid active region 26318 [Gene]
  • LOC129998877:ATAC-STARR-seq lymphoblastoid active region 26319 [Gene]
  • LOC129998878:ATAC-STARR-seq lymphoblastoid active region 26320 [Gene]
  • LOC129998879:ATAC-STARR-seq lymphoblastoid active region 26321 [Gene]
  • LOC129998880:ATAC-STARR-seq lymphoblastoid active region 26322 [Gene]
  • LOC129998881:ATAC-STARR-seq lymphoblastoid active region 26323 [Gene]
  • LOC129998882:ATAC-STARR-seq lymphoblastoid active region 26324 [Gene]
  • LOC129998883:ATAC-STARR-seq lymphoblastoid active region 26325 [Gene]
  • LOC129998884:ATAC-STARR-seq lymphoblastoid active region 26326 [Gene]
  • LOC129998886:ATAC-STARR-seq lymphoblastoid active region 26328 [Gene]
  • LOC129998887:ATAC-STARR-seq lymphoblastoid active region 26329 [Gene]
  • LOC129998888:ATAC-STARR-seq lymphoblastoid active region 26330 [Gene]
  • LOC129998889:ATAC-STARR-seq lymphoblastoid active region 26331 [Gene]
  • LOC129998890:ATAC-STARR-seq lymphoblastoid active region 26332 [Gene]
  • LOC129998892:ATAC-STARR-seq lymphoblastoid active region 26333 [Gene]
  • LOC129998893:ATAC-STARR-seq lymphoblastoid active region 26334 [Gene]
  • LOC129998895:ATAC-STARR-seq lymphoblastoid active region 26335 [Gene]
  • LOC129998897:ATAC-STARR-seq lymphoblastoid active region 26336 [Gene]
  • LOC129998898:ATAC-STARR-seq lymphoblastoid active region 26337 [Gene]
  • LOC129998899:ATAC-STARR-seq lymphoblastoid active region 26338 [Gene]
  • LOC129998900:ATAC-STARR-seq lymphoblastoid active region 26339 [Gene]
  • LOC129998901:ATAC-STARR-seq lymphoblastoid active region 26340 [Gene]
  • LOC129998904:ATAC-STARR-seq lymphoblastoid active region 26341 [Gene]
  • LOC129998905:ATAC-STARR-seq lymphoblastoid active region 26342 [Gene]
  • LOC129998906:ATAC-STARR-seq lymphoblastoid active region 26343 [Gene]
  • LOC129998913:ATAC-STARR-seq lymphoblastoid active region 26344 [Gene]
  • LOC129998914:ATAC-STARR-seq lymphoblastoid active region 26345 [Gene]
  • LOC129998915:ATAC-STARR-seq lymphoblastoid active region 26346 [Gene]
  • LOC129998916:ATAC-STARR-seq lymphoblastoid active region 26347 [Gene]
  • LOC129998917:ATAC-STARR-seq lymphoblastoid active region 26348 [Gene]
  • LOC129998918:ATAC-STARR-seq lymphoblastoid active region 26349 [Gene]
  • LOC129998919:ATAC-STARR-seq lymphoblastoid active region 26350 [Gene]
  • LOC129998921:ATAC-STARR-seq lymphoblastoid active region 26351 [Gene]
  • LOC129998922:ATAC-STARR-seq lymphoblastoid active region 26352 [Gene]
  • LOC129998923:ATAC-STARR-seq lymphoblastoid active region 26353 [Gene]
  • LOC129998928:ATAC-STARR-seq lymphoblastoid active region 26355 [Gene]
  • LOC129998929:ATAC-STARR-seq lymphoblastoid active region 26356 [Gene]
  • LOC129998930:ATAC-STARR-seq lymphoblastoid active region 26357 [Gene]
  • LOC129998931:ATAC-STARR-seq lymphoblastoid active region 26358 [Gene]
  • LOC129998932:ATAC-STARR-seq lymphoblastoid active region 26359 [Gene]
  • LOC129998933:ATAC-STARR-seq lymphoblastoid active region 26360 [Gene]
  • LOC129998934:ATAC-STARR-seq lymphoblastoid active region 26361 [Gene]
  • LOC129998935:ATAC-STARR-seq lymphoblastoid active region 26362 [Gene]
  • LOC129998937:ATAC-STARR-seq lymphoblastoid active region 26363 [Gene]
  • LOC129998938:ATAC-STARR-seq lymphoblastoid active region 26364 [Gene]
  • LOC129998940:ATAC-STARR-seq lymphoblastoid active region 26365 [Gene]
  • LOC129998945:ATAC-STARR-seq lymphoblastoid active region 26368 [Gene]
  • LOC129998947:ATAC-STARR-seq lymphoblastoid active region 26369 [Gene]
  • LOC129998950:ATAC-STARR-seq lymphoblastoid active region 26370 [Gene]
  • LOC129998953:ATAC-STARR-seq lymphoblastoid active region 26371 [Gene]
  • LOC129998954:ATAC-STARR-seq lymphoblastoid active region 26372 [Gene]
  • LOC129998955:ATAC-STARR-seq lymphoblastoid active region 26373 [Gene]
  • LOC129998962:ATAC-STARR-seq lymphoblastoid active region 26375 [Gene]
  • LOC129998963:ATAC-STARR-seq lymphoblastoid active region 26376 [Gene]
  • LOC129998964:ATAC-STARR-seq lymphoblastoid active region 26377 [Gene]
  • LOC129998966:ATAC-STARR-seq lymphoblastoid active region 26378 [Gene]
  • LOC129998971:ATAC-STARR-seq lymphoblastoid active region 26379 [Gene]
  • LOC129998972:ATAC-STARR-seq lymphoblastoid active region 26380 [Gene]
  • LOC129998975:ATAC-STARR-seq lymphoblastoid active region 26381 [Gene]
  • LOC129998977:ATAC-STARR-seq lymphoblastoid active region 26382 [Gene]
  • LOC129998853:ATAC-STARR-seq lymphoblastoid silent region 18396 [Gene]
  • LOC129998855:ATAC-STARR-seq lymphoblastoid silent region 18397 [Gene]
  • LOC129998857:ATAC-STARR-seq lymphoblastoid silent region 18398 [Gene]
  • LOC129998858:ATAC-STARR-seq lymphoblastoid silent region 18399 [Gene]
  • LOC129998860:ATAC-STARR-seq lymphoblastoid silent region 18400 [Gene]
  • LOC129998861:ATAC-STARR-seq lymphoblastoid silent region 18401 [Gene]
  • LOC129998862:ATAC-STARR-seq lymphoblastoid silent region 18402 [Gene]
  • LOC129998863:ATAC-STARR-seq lymphoblastoid silent region 18403 [Gene]
  • LOC129998864:ATAC-STARR-seq lymphoblastoid silent region 18404 [Gene]
  • LOC129998865:ATAC-STARR-seq lymphoblastoid silent region 18405 [Gene]
  • LOC129998866:ATAC-STARR-seq lymphoblastoid silent region 18406 [Gene]
  • LOC129998867:ATAC-STARR-seq lymphoblastoid silent region 18407 [Gene]
  • LOC129998870:ATAC-STARR-seq lymphoblastoid silent region 18408 [Gene]
  • LOC129998872:ATAC-STARR-seq lymphoblastoid silent region 18409 [Gene]
  • LOC129998874:ATAC-STARR-seq lymphoblastoid silent region 18410 [Gene]
  • LOC129998885:ATAC-STARR-seq lymphoblastoid silent region 18411 [Gene]
  • LOC129998891:ATAC-STARR-seq lymphoblastoid silent region 18412 [Gene]
  • LOC129998894:ATAC-STARR-seq lymphoblastoid silent region 18414 [Gene]
  • LOC129998896:ATAC-STARR-seq lymphoblastoid silent region 18415 [Gene]
  • LOC129998902:ATAC-STARR-seq lymphoblastoid silent region 18416 [Gene]
  • LOC129998903:ATAC-STARR-seq lymphoblastoid silent region 18417 [Gene]
  • LOC129998907:ATAC-STARR-seq lymphoblastoid silent region 18420 [Gene]
  • LOC129998908:ATAC-STARR-seq lymphoblastoid silent region 18421 [Gene]
  • LOC129998909:ATAC-STARR-seq lymphoblastoid silent region 18422 [Gene]
  • LOC129998910:ATAC-STARR-seq lymphoblastoid silent region 18423 [Gene]
  • LOC129998911:ATAC-STARR-seq lymphoblastoid silent region 18424 [Gene]
  • LOC129998912:ATAC-STARR-seq lymphoblastoid silent region 18425 [Gene]
  • LOC129998920:ATAC-STARR-seq lymphoblastoid silent region 18426 [Gene]
  • LOC129998924:ATAC-STARR-seq lymphoblastoid silent region 18427 [Gene]
  • LOC129998925:ATAC-STARR-seq lymphoblastoid silent region 18428 [Gene]
  • LOC129998926:ATAC-STARR-seq lymphoblastoid silent region 18429 [Gene]
  • LOC129998927:ATAC-STARR-seq lymphoblastoid silent region 18430 [Gene]
  • LOC129998936:ATAC-STARR-seq lymphoblastoid silent region 18431 [Gene]
  • LOC129998939:ATAC-STARR-seq lymphoblastoid silent region 18432 [Gene]
  • LOC129998941:ATAC-STARR-seq lymphoblastoid silent region 18433 [Gene]
  • LOC129998942:ATAC-STARR-seq lymphoblastoid silent region 18434 [Gene]
  • LOC129998943:ATAC-STARR-seq lymphoblastoid silent region 18435 [Gene]
  • LOC129998944:ATAC-STARR-seq lymphoblastoid silent region 18436 [Gene]
  • LOC129998946:ATAC-STARR-seq lymphoblastoid silent region 18437 [Gene]
  • LOC129998948:ATAC-STARR-seq lymphoblastoid silent region 18439 [Gene]
  • LOC129998949:ATAC-STARR-seq lymphoblastoid silent region 18440 [Gene]
  • LOC129998951:ATAC-STARR-seq lymphoblastoid silent region 18442 [Gene]
  • LOC129998952:ATAC-STARR-seq lymphoblastoid silent region 18443 [Gene]
  • LOC129998956:ATAC-STARR-seq lymphoblastoid silent region 18444 [Gene]
  • LOC129998957:ATAC-STARR-seq lymphoblastoid silent region 18445 [Gene]
  • LOC129998958:ATAC-STARR-seq lymphoblastoid silent region 18446 [Gene]
  • LOC129998959:ATAC-STARR-seq lymphoblastoid silent region 18447 [Gene]
  • LOC129998960:ATAC-STARR-seq lymphoblastoid silent region 18448 [Gene]
  • LOC129998961:ATAC-STARR-seq lymphoblastoid silent region 18449 [Gene]
  • LOC129998965:ATAC-STARR-seq lymphoblastoid silent region 18450 [Gene]
  • LOC129998967:ATAC-STARR-seq lymphoblastoid silent region 18453 [Gene]
  • LOC129998968:ATAC-STARR-seq lymphoblastoid silent region 18454 [Gene]
  • LOC129998969:ATAC-STARR-seq lymphoblastoid silent region 18455 [Gene]
  • LOC129998970:ATAC-STARR-seq lymphoblastoid silent region 18456 [Gene]
  • LOC129998973:ATAC-STARR-seq lymphoblastoid silent region 18457 [Gene]
  • LOC129998974:ATAC-STARR-seq lymphoblastoid silent region 18458 [Gene]
  • LOC129998976:ATAC-STARR-seq lymphoblastoid silent region 18459 [Gene]
  • ATP5MF:ATP synthase membrane subunit f [Gene - OMIM - HGNC]
  • ATP5MF-PTCD1:ATP5MF-PTCD1 readthrough [Gene - HGNC]
  • AGFG2:ArfGAP with FG repeats 2 [Gene - OMIM - HGNC]
  • LOC126860120:BRD4-independent group 4 enhancer GRCh37_chr7:98445139-98446338 [Gene]
  • BUD31:BUD31 homolog [Gene - OMIM - HGNC]
  • LOC126860123:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:99686990-99688189 [Gene]
  • COPS6:COP9 signalosome subunit 6 [Gene - OMIM - HGNC]
  • LOC116183093:CRISPRi-validated cis-regulatory element chr7.3510 [Gene]
  • LOC116183094:CRISPRi-validated cis-regulatory element chr7.3530 [Gene]
  • LOC116183095:CRISPRi-validated cis-regulatory element chr7.3567 [Gene]
  • LOC110366354:CYP3A4 5' regulatory region [Gene]
  • LOC110599592:CYP3A5 promoter [Gene]
  • LOC110599591:CYP3A7 5' regulatory region [Gene]
  • CYP3A7-CYP3A51P:CYP3A7-CYP3A51P readthrough [Gene - HGNC]
  • FBXO24:F-box protein 24 [Gene - OMIM - HGNC]
  • GNB2:G protein subunit beta 2 [Gene - OMIM - HGNC]
  • GIGYF1:GRB10 interacting GYF protein 1 [Gene - OMIM - HGNC]
  • LOC126860121:MED14-independent group 3 enhancer GRCh37_chr7:98547245-98548444 [Gene]
  • LOC126860122:MED14-independent group 3 enhancer GRCh37_chr7:98700145-98701344 [Gene]
  • LOC129389831:MPRA-validated peak6657 silencer [Gene]
  • PCOLCE-AS1:PCOLCE antisense RNA 1 [Gene - HGNC]
  • PDAP1:PDGFA associated protein 1 [Gene - OMIM - HGNC]
  • POP7:POP7 homolog, ribonuclease P/MRP subunit [Gene - OMIM - HGNC]
  • PPP1R35-AS1:PPP1R35 antisense RNA 1 [Gene - HGNC]
  • PVRIG:PVR related immunoglobulin domain containing [Gene - OMIM - HGNC]
  • SMURF1:SMAD specific E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • STAG3:STAG3 cohesin complex component [Gene - OMIM - HGNC]
  • STAG3L5P-PVRIG2P-PILRB:STAG3L5P-PVRIG2P-PILRB readthrough [Gene - HGNC]
  • LOC113687174:Sharpr-MPRA regulatory region 1011 [Gene]
  • LOC121740692:Sharpr-MPRA regulatory region 10425 [Gene]
  • LOC123956186:Sharpr-MPRA regulatory region 10979 [Gene]
  • LOC123956188:Sharpr-MPRA regulatory region 11703 [Gene]
  • LOC121175352:Sharpr-MPRA regulatory region 15167 [Gene]
  • LOC123956185:Sharpr-MPRA regulatory region 1794 [Gene]
  • LOC121175353:Sharpr-MPRA regulatory region 1952 [Gene]
  • LOC113748420:Sharpr-MPRA regulatory region 4482 [Gene]
  • LOC113687175:Sharpr-MPRA regulatory region 4647 [Gene]
  • LOC123956187:Sharpr-MPRA regulatory region 7718 [Gene]
  • LOC121175354:Sharpr-MPRA regulatory region 8670 [Gene]
  • SAP25:Sin3A associated protein 25 [Gene - OMIM - HGNC]
  • TAF6:TATA-box binding protein associated factor 6 [Gene - OMIM - HGNC]
  • TSC22D4:TSC22 domain family member 4 [Gene - OMIM - HGNC]
  • TSC22D4-C7ORF61:TSC22D4-C7orf61 readthrough [Gene]
  • ZASP:ZO-2 associated speckle protein [Gene - OMIM]
  • ACTL6B:actin like 6B [Gene - OMIM - HGNC]
  • ARPC1A:actin related protein 2/3 complex subunit 1A [Gene - OMIM - HGNC]
  • ARPC1B:actin related protein 2/3 complex subunit 1B [Gene - OMIM - HGNC]
  • AP4M1:adaptor related protein complex 4 subunit mu 1 [Gene - OMIM - HGNC]
  • AZGP1:alpha-2-glycoprotein 1, zinc-binding [Gene - OMIM - HGNC]
  • CNPY4:canopy FGF signaling regulator 4 [Gene - OMIM - HGNC]
  • CPSF4:cleavage and polyadenylation specific factor 4 [Gene - OMIM - HGNC]
  • CYP3A43:cytochrome P450 family 3 subfamily A member 43 [Gene - OMIM - HGNC]
  • CYP3A4:cytochrome P450 family 3 subfamily A member 4 [Gene - OMIM - HGNC]
  • CYP3A5:cytochrome P450 family 3 subfamily A member 5 [Gene - OMIM - HGNC]
  • CYP3A7:cytochrome P450 family 3 subfamily A member 7 [Gene - OMIM - HGNC]
  • LOC110366355:enhancer in intron 10 of CYP3A4 [Gene]
  • EPO:erythropoietin [Gene - OMIM - HGNC]
  • FAM200A:family with sequence similarity 200 member A [Gene - HGNC]
  • GAL3ST4:galactose-3-O-sulfotransferase 4 [Gene - OMIM - HGNC]
  • GJC3:gap junction protein gamma 3 [Gene - OMIM - HGNC]
  • GPC2:glypican 2 [Gene - OMIM - HGNC]
  • KPNA7:karyopherin subunit alpha 7 [Gene - OMIM - HGNC]
  • LAMTOR4:late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 [Gene - OMIM - HGNC]
  • LRCH4:leucine rich repeats and calponin homology domain containing 4 [Gene - OMIM - HGNC]
  • MBLAC1:metallo-beta-lactamase domain containing 1 [Gene - HGNC]
  • MEPCE:methylphosphate capping enzyme [Gene - OMIM - HGNC]
  • MIR106B:microRNA 106b [Gene - OMIM - HGNC]
  • MIR12119:microRNA 12119 [Gene - HGNC]
  • MIR25:microRNA 25 [Gene - OMIM - HGNC]
  • MIR3609:microRNA 3609 [Gene - HGNC]
  • MIR4658:microRNA 4658 [Gene - HGNC]
  • MIR6840:microRNA 6840 [Gene - HGNC]
  • MIR93:microRNA 93 [Gene - OMIM - HGNC]
  • MCM7:minichromosome maintenance complex component 7 [Gene - OMIM - HGNC]
  • MOSPD3:motile sperm domain containing 3 [Gene - OMIM - HGNC]
  • NPTX2:neuronal pentraxin 2 [Gene - OMIM - HGNC]
  • NYAP1:neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 [Gene - OMIM - HGNC]
  • OR2AE1:olfactory receptor family 2 subfamily AE member 1 [Gene - HGNC]
  • PILRA:paired immunoglobin like type 2 receptor alpha [Gene - OMIM - HGNC]
  • PILRB:paired immunoglobin like type 2 receptor beta [Gene - OMIM - HGNC]
  • PTCD1:pentatricopeptide repeat domain 1 [Gene - OMIM - HGNC]
  • PCOLCE:procollagen C-endopeptidase enhancer [Gene - OMIM - HGNC]
  • PPP1R35:protein phosphatase 1 regulatory subunit 35 [Gene - OMIM - HGNC]
  • SCARNA28:small Cajal body-specific RNA 28 [Gene - HGNC]
  • SPDYE3:speedy/RINGO cell cycle regulator family member E3 [Gene - OMIM - HGNC]
  • SPACDR:sperm acrosome developmental regulator [Gene - OMIM - HGNC]
  • TRW-CCA5-1:tRNA-Trp (anticodon CCA) 5-1 [Gene - HGNC]
  • TRAPPC14:trafficking protein particle complex subunit 14 [Gene - OMIM - HGNC]
  • TFR2:transferrin receptor 2 [Gene - OMIM - HGNC]
  • TRRAP:transformation/transcription domain associated protein [Gene - OMIM - HGNC]
  • TMEM130:transmembrane protein 130 [Gene - HGNC]
  • TMEM225B:transmembrane protein 225B [Gene - HGNC]
  • TRIM4:tripartite motif containing 4 [Gene - HGNC]
  • LOC101927550:uncharacterized LOC101927550 [Gene]
  • LOC105375423:uncharacterized LOC105375423 [Gene]
  • LOC105375429:uncharacterized LOC105375429 [Gene]
  • ZCWPW1:zinc finger CW-type and PWWP domain containing 1 [Gene - OMIM - HGNC]
  • ZSCAN21:zinc finger and SCAN domain containing 21 [Gene - OMIM - HGNC]
  • ZSCAN25:zinc finger and SCAN domain containing 25 [Gene - HGNC]
  • ZNF394:zinc finger protein 394 [Gene - OMIM - HGNC]
  • ZNF3:zinc finger protein 3 [Gene - OMIM - HGNC]
  • ZNF655:zinc finger protein 655 [Gene - OMIM - HGNC]
  • ZNF789:zinc finger protein 789 [Gene - HGNC]
  • ZKSCAN1:zinc finger with KRAB and SCAN domains 1 [Gene - OMIM - HGNC]
  • ZKSCAN5:zinc finger with KRAB and SCAN domains 5 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q22.1
Genomic location:
Chr7: 98454022 - 100723798 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1
HGVS:

    Condition(s)

    Name:
    Multiple congenital anomalies/dysmorphic syndrome
    Identifiers:
    MONDO: MONDO:0019042; MedGen: C5681310

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004034231Broad Institute Rare Disease Group, Broad Institute
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Aug 24, 2023)     		de novoresearch

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedresearch

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Broad Institute Rare Disease Group, Broad Institute, SCV004034231.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearch PubMed (1)

    Description

    A confirmed de novo heterozygous deletion of 7q22.1 encompassing 61 genes (https://genescout.omim.org/) was identified by exome sequencing and validated by chromosomal microarray in one individual with a neurodevelopmental disorder and multiple congenital anomalies ([GRCh38] chr7:98454022_100723798x1). These breakpoints have been estimated by exome sequencing and therefore may not reflect the true breakpoints. The patient phenotype is nonspecific, but is consistent with cases described in the literature and/or published databases with overlapping variants. There is complete overlap with the TRRAP gene which has been assessed by the ClinGen Dosage Sensitivity Working Group but has not yet met the burden of evidence for haploinsufficiency (HI) (https://search.clinicalgenome.org/kb/gene-dosage). Though dosage sensitivity has not been established, more than two HI predictors suggest that the TRRAP gene is haploinsufficient (https://www.deciphergenomics.org/, https://gnomad.broadinstitute.org/). In summary, the 7q22.1 deletion meets criteria to be classified as pathogenic. The ACMG/ClinGen evidence codes and points used in this curation are as follows: 1: 0 points, 2: 0.15 points, 3: 0.90 points, 4-5: 0 points; Total: 1.05 points; Riggs 2020 (PMID: 31690835).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Dec 24, 2023