NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) AND not specified

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Dec 2, 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:: RCV000517708.5

Allele description [Variation Report for NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)]

NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.2

Genomic location:

Preferred name:

NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)

HGVS:

NC_000001.11:g.179575683G>A
NG_007535.1:g.5267C>T
NM_001297575.2:c.182C>T
NM_014625.4:c.182C>TMANE SELECT
NP_001284504.1:p.Ala61Val
NP_055440.1:p.Ala61Val
NP_055440.1:p.Ala61Val
LRG_887t1:c.182C>T
LRG_887:g.5267C>T
LRG_887p1:p.Ala61Val
NC_000001.10:g.179544818G>A
NM_014625.3:c.182C>T
p.ALA61VAL

Protein change:

A61V

Links:

dbSNP: rs201050491

NCBI 1000 Genomes Browser:

rs201050491

Molecular consequence:

NM_001297575.2:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014625.4:c.182C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000614344	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely benign (Dec 2, 2016)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 17216259, 18216321, 15253708, 15954915, 26467025
SCV001926574	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV003839787	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Benign (Jun 13, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000614344

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely benign
(Dec 2, 2016)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001926574

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

SCV003839787

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Benign
(Jun 13, 2022)

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
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.

Gbadegesin R, Hinkes B, Vlangos C, Mucha B, Liu J, Hopcian J, Hildebrandt F.

Pediatr Nephrol. 2007 Apr;22(4):509-13. Epub 2007 Jan 10.

PubMed [citation]

PMID:: 17216259

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

Hinkes B, Vlangos C, Heeringa S, Mucha B, Gbadegesin R, Liu J, Hasselbacher K, Ozaltin F, Hildebrandt F; APN Study Group..

J Am Soc Nephrol. 2008 Feb;19(2):365-71. doi: 10.1681/ASN.2007040452. Epub 2008 Jan 23.

PubMed [citation]

PMID:: 18216321
PMCID:: PMC2396749

See all PubMed Citations (5)

Details of each submission

From Athena Diagnostics, SCV000614344.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001926574.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genetic Services Laboratory, University of Chicago, SCV003839787.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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