NM_144696.6(AXDND1):c.3032-1891_3032-1890del AND Steroid-resistant nephrotic syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001273611.1

Allele description [Variation Report for NM_144696.6(AXDND1):c.3032-1891_3032-1890del]

NM_144696.6(AXDND1):c.3032-1891_3032-1890del

Genes:
NPHS2:NPHS2 stomatin family member, podocin [Gene - OMIM - HGNC]
AXDND1:axonemal dynein light chain domain containing 1 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q25.2
Genomic location:
Preferred name:
NM_144696.6(AXDND1):c.3032-1891_3032-1890del
HGVS:
  • NC_000001.11:g.179552621_179552622del
  • NG_007535.1:g.28329_28330del
  • NG_033075.1:g.191902_191903del
  • NM_001297575.2:c.651_652del
  • NM_014625.3:c.855_856del
  • NM_014625.4:c.855_856delMANE SELECT
  • NM_144696.6:c.3032-1891_3032-1890delMANE SELECT
  • NP_001284504.1:p.Arg218fs
  • NP_055440.1:p.Arg286fs
  • LRG_887t1:c.855_856del
  • LRG_887:g.28329_28330del
  • LRG_887p1:p.Arg286fs
  • NC_000001.10:g.179521756_179521757del
  • NM_014625.2:c.855_856delAA
  • NM_014625.3:c.855_856delAA
  • p.Q285fs
Protein change:
R218fs
Links:
OMIM: 604766.0005; dbSNP: rs749740335
NCBI 1000 Genomes Browser:
rs749740335
Molecular consequence:
  • NM_001297575.2:c.651_652del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014625.3:c.855_856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144696.6:c.3032-1891_3032-1890del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Steroid-resistant nephrotic syndrome
Identifiers:
MONDO: MONDO:0044765; MedGen: C0403397; Human Phenotype Ontology: HP:0012588

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001456811Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001456811.1

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

Last Updated: Oct 7, 2021

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