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NM_031885.5(BBS2):c.118G>T (p.Val40Phe) AND Retinal dystrophy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001075302.2

Allele description [Variation Report for NM_031885.5(BBS2):c.118G>T (p.Val40Phe)]

NM_031885.5(BBS2):c.118G>T (p.Val40Phe)

Gene:
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
HGVS:
  • NC_000016.10:g.56514680C>A
  • NG_009312.2:g.10345G>T
  • NM_001377456.1:c.118G>T
  • NM_031885.5:c.118G>TMANE SELECT
  • NP_001364385.1:p.Val40Phe
  • NP_114091.4:p.Val40Phe
  • NC_000016.9:g.56548592C>A
  • NG_009312.1:g.10604G>T
  • NM_031885.3:c.118G>T
  • NR_165293.1:n.280G>T
  • NR_165294.1:n.280G>T
  • NR_165295.1:n.280G>T
  • NR_165296.1:n.280G>T
  • NR_165297.1:n.280G>T
Protein change:
V40F
Links:
dbSNP: rs886043059
NCBI 1000 Genomes Browser:
rs886043059
Molecular consequence:
  • NM_001377456.1:c.118G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.118G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.280G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.280G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.280G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.280G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.280G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001240919Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)
Uncertain significance
(Dec 22, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV001240919.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024