NM_031885.4(BBS2):c.413T>G (p.Ile138Ser) AND Retinitis pigmentosa

Clinical significance:Pathogenic (Last evaluated: Jan 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001199435.1

Allele description [Variation Report for NM_031885.4(BBS2):c.413T>G (p.Ile138Ser)]

NM_031885.4(BBS2):c.413T>G (p.Ile138Ser)

Gene:
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_031885.4(BBS2):c.413T>G (p.Ile138Ser)
HGVS:
  • NC_000016.10:g.56511217A>C
  • NG_009312.1:g.14067T>G
  • NM_031885.4:c.413T>G
  • NP_114091.3:p.Ile138Ser
  • NC_000016.9:g.56545129A>C
  • NM_031885.3:c.413T>G
Protein change:
I138S
Links:
dbSNP: rs1386789664
NCBI 1000 Genomes Browser:
rs1386789664
Molecular consequence:
  • NM_031885.4:c.413T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration; Retinotapetal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000; Human Phenotype Ontology: HP:0000547

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001162418Molecular Genetics Laboratory,Institute for Ophthalmic Researchcriteria provided, single submitter
Pathogenic
(Jan 9, 2020)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Genetics Laboratory,Institute for Ophthalmic Research, SCV001162418.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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