NM_014625.4(NPHS2):c.948del (p.Ala317fs) AND Steroid-resistant nephrotic syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 6, 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:: RCV001831989.1

Allele description [Variation Report for NM_014625.4(NPHS2):c.948del (p.Ala317fs)]

NM_014625.4(NPHS2):c.948del (p.Ala317fs)

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_014625.4(NPHS2):c.948del (p.Ala317fs)

HGVS:

NC_000001.11:g.179551377del
NG_007535.1:g.29573del
NG_033075.1:g.190658del
NM_001297575.2:c.744del
NM_014625.4:c.948delMANE SELECT
NM_144696.6:c.3032-3135delMANE SELECT
NP_001284504.1:p.Ala249fs
NP_055440.1:p.Ala317fs
NP_055440.1:p.Ala317fs
LRG_887t1:c.948del
LRG_887:g.29573del
LRG_887p1:p.Ala317fs
NC_000001.10:g.179520512del
NM_014625.2:c.948delT
NM_014625.3:c.948del
NM_014625.3:c.948delT

Protein change:

A249fs

Links:

dbSNP: rs775170915

NCBI 1000 Genomes Browser:

rs775170915

Molecular consequence:

NM_001297575.2:c.744del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014625.4:c.948del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144696.6:c.3032-3135del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002090085	Natera, Inc.	no assertion criteria provided	Pathogenic (Nov 6, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002090085

Natera, Inc.

no assertion criteria provided

Pathogenic
(Nov 6, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002090085.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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