NM_000278.5(PAX2):c.76dup (p.Val26fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 17, 2019
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:: RCV001849315.2

Allele description [Variation Report for NM_000278.5(PAX2):c.76dup (p.Val26fs)]

NM_000278.5(PAX2):c.76dup (p.Val26fs)

Gene:

PAX2:paired box 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q24.31

Genomic location:

Preferred name:

NM_000278.5(PAX2):c.76dup (p.Val26fs)

HGVS:

NC_000010.11:g.100749778dup
NG_008680.2:g.19070dup
NM_000278.5:c.76dupMANE SELECT
NM_001304569.2:c.169dup
NM_003987.5:c.76dup
NM_003988.5:c.76dup
NM_003989.5:c.76dup
NM_003990.5:c.76dup
NP_000269.3:p.Val26fs
NP_001291498.1:p.Val57fs
NP_003978.3:p.Val26fs
NP_003979.2:p.Val26fs
NP_003980.3:p.Val26fs
NP_003981.3:p.Val26fs
NC_000010.10:g.102509528_102509529insG
NC_000010.10:g.102509535dup
NM_000278.3:c.69_70insG
NM_000278.3:c.76dup
NM_000278.5:c.69_70insGMANE SELECT
NM_000278.5:c.76dup
NM_000278.5:c.76dupGMANE SELECT
NM_003987.5:c.76dup
NM_003988.3:c.76dup
NM_003990.3:c.76dup
NM_003990.3:c.76dupG
NM_003990.4:c.76dup
NM_003990.4:c.76dupG
p.Val26GlyfsTer28

Protein change:

V26fs

Links:

OMIM: 167409.0002; dbSNP: rs75462234

NCBI 1000 Genomes Browser:

rs75462234

Molecular consequence:

NM_000278.5:c.76dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304569.2:c.169dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003987.5:c.76dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003988.5:c.76dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003989.5:c.76dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003990.5:c.76dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Focal segmental glomerulosclerosis (FSGS)
Synonyms:: Glomerulosclerosis, focal; Focal sclerosis with hyalinosis
Identifiers:: MONDO: MONDO:0100313; MedGen: C0017668; Human Phenotype Ontology: HP:0000097

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
SCV002106627	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Likely pathogenic (Apr 17, 2019)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002106627

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Likely pathogenic
(Apr 17, 2019)

germline

literature only

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

Help

Summary from all submissions

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

Citations

PubMed

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Vivante A, Chacham OS, Shril S, Schreiber R, Mane SM, Pode-Shakked B, Soliman NA, Koneth I, Schiffer M, Anikster Y, Hildebrandt F.

Pediatr Nephrol. 2019 Sep;34(9):1607-1613. doi: 10.1007/s00467-019-04256-0. Epub 2019 Apr 17.

PubMed [citation]

PMID:: 31001663
PMCID:: PMC6660980

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106627.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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