NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) AND Cone-rod dystrophy 13

Clinical significance:Pathogenic (Last evaluated: May 2, 2013)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000005275.4

Allele description

NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser)

Gene:
RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser)
HGVS:
  • NC_000014.9:g.21321881G>T
  • NG_008933.1:g.38905G>T
  • NM_020366.3:c.1639G>T
  • NP_065099.3:p.Ala547Ser
  • NC_000014.8:g.21790040G>T
  • Q96KN7:p.Ala547Ser
Protein change:
A547S; ALA547SER
Links:
UniProtKB: Q96KN7#VAR_017831; OMIM: 605446.0006; dbSNP: rs10151259
GMAF:
0.1673(T), 10151259
NCBI 1000 Genomes Browser:
rs10151259
Allele Frequency:
0.21049(T), GO-ESP
Molecular consequence:
  • NM_020366.3:c.1639G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cone-rod dystrophy 13 (CORD13)
Synonyms:
Leber Congenital Amaurosis
Identifiers:
MedGen: C2750720; Orphanet: 1872; OMIM: 608194

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025453OMIMno assertion criteria providedPathogenic
(Aug 1, 2003)
germlineliterature only

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

SCV000086984GeneReviewsno assertion criteria providedpathologic
(May 2, 2013)
not providedcuration

Summary from all submissions

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

Citations

PubMed

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.

Hameed A, Abid A, Aziz A, Ismail M, Mehdi SQ, Khaliq S.

J Med Genet. 2003 Aug;40(8):616-9. No abstract available.

PubMed [citation]
PMID:
12920076
PMCID:
PMC1735563

Details of each submission

From OMIM, SCV000025453.2

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

Description

In 3 Pakistani families, Hameed et al. (2003) found that recessive cone-rod dystrophy (CORD13; 608194) segregated with homozygosity for a 1639G-T transversion in exon 13 of the RPGRIP1 gene, which changed codon 547 from GCT (ala) to TCT (ser).

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

From GeneReviews, SCV000086984.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 30, 2017