NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser) AND Steroid-resistant nephrotic syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 10, 2020
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:
RCV001825421.1

Allele description [Variation Report for NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)]

NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)

Genes:
NPHS2:NPHS2 stomatin family member, podocin [Gene - OMIM - HGNC]
AXDND1:axonemal dynein light chain domain containing 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.2
Genomic location:
Preferred name:
NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)
HGVS:
  • NC_000001.11:g.179551261T>C
  • NG_007535.1:g.29689A>G
  • NG_033075.1:g.190542T>C
  • NM_001297575.2:c.860A>G
  • NM_014625.4:c.1064A>GMANE SELECT
  • NM_144696.6:c.3032-3251T>CMANE SELECT
  • NP_001284504.1:p.Asn287Ser
  • NP_055440.1:p.Asn355Ser
  • NP_055440.1:p.Asn355Ser
  • LRG_887t1:c.1064A>G
  • LRG_887:g.29689A>G
  • LRG_887p1:p.Asn355Ser
  • NC_000001.10:g.179520396T>C
  • NM_014625.3:c.1064A>G
Protein change:
N287S
Links:
dbSNP: rs1040479346
NCBI 1000 Genomes Browser:
rs1040479346
Molecular consequence:
  • NM_144696.6:c.3032-3251T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001297575.2:c.860A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014625.4:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002090083Natera, Inc.
no assertion criteria provided
Uncertain significance
(Mar 10, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002090083.1

#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: Sep 1, 2024