NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer) AND Finnish congenital nephrotic syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 27, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000664995.1

Allele description [Variation Report for NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer)]

NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

19q13.12

Genomic location:

Preferred name:

NM_004646.4(NPHS1):c.809dup (p.Gly270_Asn271insTer)

HGVS:

NC_000019.10:g.35849271dup
NG_013356.2:g.25021dup
NG_051206.1:g.2637dup
NM_004646.4:c.809dupMANE SELECT
NP_004637.1:p.Gly270_Asn271insTer
LRG_693:g.25021dup
NC_000019.9:g.36340173dup
NM_004646.3:c.809dupG

Links:

dbSNP: rs1555763503

NCBI 1000 Genomes Browser:

rs1555763503

Molecular consequence:

NM_004646.4:c.809dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000789045	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Dec 27, 2016)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789045

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Dec 27, 2016)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000789045.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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