NM_031885.5(BBS2):c.413T>G (p.Ile138Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000761935.3

Allele description [Variation Report for NM_031885.5(BBS2):c.413T>G (p.Ile138Ser)]

NM_031885.5(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_031885.5(BBS2):c.413T>G (p.Ile138Ser)
HGVS:
  • NC_000016.10:g.56511217A>C
  • NG_009312.1:g.14067T>G
  • NG_009312.2:g.13808T>G
  • NM_001377456.1:c.413T>G
  • NM_031885.5:c.413T>GMANE SELECT
  • NP_001364385.1:p.Ile138Ser
  • NP_114091.4:p.Ile138Ser
  • NC_000016.9:g.56545129A>C
  • NM_031885.3:c.413T>G
  • NR_165293.1:n.575T>G
  • NR_165294.1:n.575T>G
  • NR_165295.1:n.575T>G
  • NR_165296.1:n.575T>G
  • NR_165297.1:n.575T>G
Protein change:
I138S
Links:
dbSNP: rs1386789664
NCBI 1000 Genomes Browser:
rs1386789664
Molecular consequence:
  • NM_001377456.1:c.413T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.413T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.575T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.575T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.575T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.575T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.575T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000892162CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Aug 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000892162.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 25, 2021

Support Center