NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn) AND Finnish congenital nephrotic syndrome

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:: RCV000049921.1

Allele description [Variation Report for NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn)]

NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn)

Gene:

NPHS1:NPHS1 adhesion molecule, nephrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.12

Genomic location:

Preferred name:

NM_004646.4(NPHS1):c.512T>A (p.Ile171Asn)

HGVS:

NC_000019.10:g.35850975A>T
NG_013356.2:g.23313T>A
NG_051206.1:g.4341A>T
NM_004646.4:c.512T>AMANE SELECT
NP_004637.1:p.Ile171Asn
NP_004637.1:p.Ile171Asn
LRG_693t1:c.512T>A
LRG_693:g.23313T>A
LRG_693p1:p.Ile171Asn
NC_000019.9:g.36341877A>T
NM_004646.3:c.512T>A
O60500:p.Ile171Asn

Protein change:

I171N

Links:

UniProtKB: O60500#VAR_013031; dbSNP: rs386833946

NCBI 1000 Genomes Browser:

rs386833946

Molecular consequence:

NM_004646.4:c.512T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Finnish congenital nephrotic syndrome (NPHS1)
Synonyms:: NEPHROTIC SYNDROME, TYPE 1; Nephrosis 1, congenital, Finnish type; Congenital nephrotic syndrome 1
Identifiers:: MONDO: MONDO:0009732; MedGen: C0403399; Orphanet: 839; OMIM: 256300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000082330	Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	no assertion criteria provided	probable-pathogenic	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000082330

Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

no assertion criteria provided

probable-pathogenic

not provided

PubMed (1)
[See all records that cite this PMID]

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference: SCV000082330

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac C K, Kashtan CE, Homberg C, Olsen A, Kestilä M, Tryggvason K.

Am J Hum Genet. 1999 Jan;64(1):51-61.

PubMed [citation]

PMID:: 9915943
PMCID:: PMC1377702

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082330.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

Description

Converted during submission to Likely pathogenic.

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

Last Updated: Apr 23, 2022

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