NM_014625.4(NPHS2):c.369del (p.Cys124fs) AND Nephrotic syndrome, type 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 8, 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:: RCV000412170.2

Allele description [Variation Report for NM_014625.4(NPHS2):c.369del (p.Cys124fs)]

NM_014625.4(NPHS2):c.369del (p.Cys124fs)

Gene:

NPHS2:NPHS2 stomatin family member, podocin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q25.2

Genomic location:

Preferred name:

NM_014625.4(NPHS2):c.369del (p.Cys124fs)

HGVS:

NC_000001.11:g.179564699del
NG_007535.1:g.16251del
NM_001297575.2:c.369del
NM_014625.4:c.369delMANE SELECT
NP_001284504.1:p.Cys124fs
NP_055440.1:p.Cys124fs
LRG_887:g.16251del
NC_000001.10:g.179533834del
NM_014625.2:c.369delC

Protein change:

C124fs

Links:

dbSNP: rs1057516395

NCBI 1000 Genomes Browser:

rs1057516395

Molecular consequence:

NM_001297575.2:c.369del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014625.4:c.369del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Nephrotic syndrome, type 2 (NPHS2)
Synonyms:: Nephrotic syndrome, steroid-resistant, autosomal recessive; Hereditary nephrotic syndrome
Identifiers:: MONDO: MONDO:0010974; MedGen: C1868672; Orphanet: 656; OMIM: 600995

Recent activity

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N-acetylmuramidase [Xanthomonas citri pv. punicae]
N-acetylmuramidase [Xanthomonas citri pv. punicae]
gi|1680482408|gnl|PRJNA385241|CAI18 5|gb|QCZ85429.1|

Protein
Bbp2 [Bordetella phage BPP-1]
Bbp2 [Bordetella phage BPP-1]
gi|40950103|gb|AAR97669.1|

Protein
ZYRO0D04400p [Zygosaccharomyces rouxii]
ZYRO0D04400p [Zygosaccharomyces rouxii]
gi|238939516|emb|CAR27691.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000485585	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jan 8, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485585

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Jan 8, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

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, SCV000485585.2

#	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: Mar 30, 2024

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