NM_024741.2(ZNF408):c.363_364delTG (p.Ala122Leufs) AND Retinitis pigmentosa 72

Clinical significance:Pathogenic (Last evaluated: Jul 15, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000186511.2

Allele description

NM_024741.2(ZNF408):c.363_364delTG (p.Ala122Leufs)

Gene:
ZNF408:zinc finger protein 408 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_024741.2(ZNF408):c.363_364delTG (p.Ala122Leufs)
HGVS:
  • NC_000011.10:g.46702736_46702737delTG
  • NM_024741.2:c.363_364delTG
  • NP_079017.1:p.Ala122Leufs
  • NC_000011.9:g.46724286_46724287delTG
  • NM_024741.2:c.358_359delGT
  • NM_024741.2:c.363_364deTG
Links:
OMIM: 616454.0003; dbSNP: rs875989821
NCBI 1000 Genomes Browser:
rs875989821
Molecular consequence:
  • NM_024741.2:c.363_364delTG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinitis pigmentosa 72 (RP72)
Identifiers:
MedGen: CN231688; Orphanet: 791; OMIM: 616469
Age of onset:
Adolescent
Prevalence:
1-5 / 10 000 791

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000240030OMIMno assertion criteria providedPathogenic
(Jul 15, 2015)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L, Duijkers L, Lopez-Martinez MA, Riveiro-Alvarez R, Da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C.

Hum Mol Genet. 2015 Jul 15;24(14):4037-48. doi: 10.1093/hmg/ddv140. Epub 2015 Apr 16.

PubMed [citation]
PMID:
25882705

Details of each submission

From OMIM, SCV000240030.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 Spanish sisters with retinitis pigmentosa (RP72; 616469), born of unaffected parents who came from the same small geographic region, Avila-Fernandez et al. (2015) identified homozygosity for a 2-bp deletion (c.358_359delGT, NM_024741.2) in exon 3 of the ZNF408 gene, causing a frameshift predicted to result in a premature termination codon (Ala122LeufsTer2). The deletion was not found in 374 ethnically matched control alleles or in the 1000 Genomes Project or Exome Variant Server databases.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 6, 2016