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GRCh37/hg19 22q11.21(chr22:18900895-18923882) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001536049.3

Allele description [Variation Report for GRCh37/hg19 22q11.21(chr22:18900895-18923882)]

GRCh37/hg19 22q11.21(chr22:18900895-18923882)

Gene:
PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q11.21
Genomic location:
Chr22: 18900895 - 18923882 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.21(chr22:18900895-18923882)
HGVS:
NC_000022.10:g.(?_18900895)_(18923882_?)del

Condition(s)

Name:
Proline dehydrogenase deficiency (HYRPRO1)
Synonyms:
PROLINE OXIDASE DEFICIENCY; Hyperprolinemia type 1
Identifiers:
MONDO: MONDO:0009400; MedGen: C0268529; Orphanet: 419; OMIM: 239500
Name:
Schizophrenia 4 (SCZD4)
Synonyms:
SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED; SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4
Identifiers:
MONDO: MONDO:0010943; MedGen: C1833247; OMIM: 600850

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001752744Fulgent Genetics, Fulgent Genetics
no assertion criteria provided
Likely pathogenicunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV001752744.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024