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Single allele AND Nephronophthisis-like nephropathy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 19, 2024
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:
RCV003992102.1

Allele description [Variation Report for Single allele]

Genes:
LOC130067533:ATAC-STARR-seq lymphoblastoid active region 19109 [Gene]
LOC130067534:ATAC-STARR-seq lymphoblastoid active region 19110 [Gene]
LOC130067535:ATAC-STARR-seq lymphoblastoid active region 19111 [Gene]
LOC130067536:ATAC-STARR-seq lymphoblastoid active region 19112 [Gene]
RANGAP1:Ran GTPase activating protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.2
Genomic location:
Chr22: 41274438 - 41288800 (on Assembly GRCh38)
Observations:
2

Condition(s)

Name:
Nephronophthisis-like nephropathy 1 (NPHPL1)
Identifiers:
MONDO: MONDO:0013163; MedGen: C3150419; Orphanet: 655; OMIM: 613159

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004812035Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
no assertion criteria provided
Pathogenic
(Feb 19, 2024) 		paternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes22not providednot providednot providedclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV004812035.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providedBloodnot provided2not provided2not provided

Last Updated: Apr 15, 2024