NM_000278.5(PAX2):c.212G>C (p.Arg71Thr) AND Papillorenal syndrome with macular abnormalities

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2012
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:: RCV000014816.21

Allele description [Variation Report for NM_000278.5(PAX2):c.212G>C (p.Arg71Thr)]

NM_000278.5(PAX2):c.212G>C (p.Arg71Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

Preferred name:

NM_000278.5(PAX2):c.212G>C (p.Arg71Thr)

HGVS:

NC_000010.11:g.100749914G>C
NG_008680.2:g.19206G>C
NM_000278.5:c.212G>CMANE SELECT
NM_001304569.2:c.305G>C
NM_003987.5:c.212G>C
NM_003988.5:c.212G>C
NM_003989.5:c.212G>C
NM_003990.5:c.212G>C
NP_000269.3:p.Arg71Thr
NP_001291498.1:p.Arg102Thr
NP_003978.3:p.Arg71Thr
NP_003979.2:p.Arg71Thr
NP_003980.3:p.Arg71Thr
NP_003981.3:p.Arg71Thr
NC_000010.10:g.102509671G>C
Q02962:p.Arg71Thr

Protein change:

R102T; ARG71THR

Links:

UniProtKB: Q02962#VAR_068086; OMIM: 167409.0012; dbSNP: rs104894170

NCBI 1000 Genomes Browser:

rs104894170

Molecular consequence:

NM_000278.5:c.212G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001304569.2:c.305G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003987.5:c.212G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003988.5:c.212G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003989.5:c.212G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003990.5:c.212G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Papillorenal syndrome with macular abnormalities
Identifiers:: MedGen: C4016304

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035071	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2012)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 2644560, 15652857, 22213154

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035071

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2012)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Nature of renal involvement in the acro-renal-ocular syndrome.

Naito T, Kida H, Yokoyama H, Abe T, Takeda S, Uno D, Hattori N.

Nephron. 1989;51(1):115-8. Review.

PubMed [citation]

PMID:: 2644560

Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

Higashide T, Wada T, Sakurai M, Yokoyama H, Sugiyama K.

Am J Ophthalmol. 2005 Jan;139(1):203-5.

PubMed [citation]

PMID:: 15652857

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000035071.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In a mother and daughter previously reported by Naito et al. (1989) with macular abnormalities accompanied by anomalies of the optic disc and kidney consistent with the diagnosis of renal-coloboma syndrome (120330), Higashide et al. (2005) identified heterozygosity for a 755G-C transversion in the PAX2 gene, resulting in an arg71-to-thr (R71T) substitution. Because the daughter also had polydactyly, Naito et al. (1989) had made the diagnosis of acrorenoocular syndrome (607323).

Based on nucleotide numbering reflecting the cDNA transcript with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence, Bower et al. (2012) referred to the R71T (755G-C) mutation as 212G-C.

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

Last Updated: Apr 23, 2022

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