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GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1 AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 22, 2020
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:
RCV001801207.1

Allele description [Variation Report for GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1]

GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1

Genes:
  • FBXL18:F-box and leucine rich repeat protein 18 [Gene - OMIM - HGNC]
  • RBAK:RB associated KRAB zinc finger [Gene - OMIM - HGNC]
  • RBAK-RBAKDN:RBAK-RBAKDN readthrough [Gene - HGNC]
  • WIPI2:WD repeat domain, phosphoinositide interacting 2 [Gene - OMIM - HGNC]
  • ACTB:actin beta [Gene - OMIM - HGNC]
  • SLC29A4:solute carrier family 29 member 4 [Gene - OMIM - HGNC]
  • TNRC18:trinucleotide repeat containing 18 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7p22.1
Genomic location:
Chr7: 5096876 - 5569338 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1
HGVS:
NC_000007.13:g.(?_5096876)_(5569338_?)del

Condition(s)

Name:
Astigmatism
Identifiers:
MONDO: MONDO:0011284; MedGen: C0004106; OMIM: 603047; Human Phenotype Ontology: HP:0000483
Name:
Autistic behavior
Identifiers:
MedGen: C0856975; Human Phenotype Ontology: HP:0000729
Name:
Myopia
Synonyms:
Myopia (disease)
Identifiers:
MONDO: MONDO:0001384; MedGen: C0027092; OMIM: PS160700; Human Phenotype Ontology: HP:0000545
Name:
Impaired social interactions
Identifiers:
MedGen: C0150080
Name:
Aplasia/Hypoplasia of the inner ear
Identifiers:
MedGen: C4024625; Human Phenotype Ontology: HP:0008774

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002047419Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)		Pathogenic
(Oct 22, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

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.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV002047419.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024