NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) AND Bardet-Biedl syndrome 2

Clinical significance:Likely benign (Last evaluated: Sep 3, 2020)

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:
RCV001277877.1

Allele description [Variation Report for NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)]

NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)

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.1157C>T (p.Thr386Met)
HGVS:
  • NC_000016.10:g.56501421G>A
  • NG_009312.1:g.23863C>T
  • NG_009312.2:g.23604C>T
  • NM_001377456.1:c.1157C>T
  • NM_031885.5:c.1157C>TMANE SELECT
  • NP_001364385.1:p.Thr386Met
  • NP_114091.4:p.Thr386Met
  • NC_000016.9:g.56535333G>A
  • NM_031885.3:c.1157C>T
  • NR_165293.1:n.1319C>T
  • NR_165294.1:n.1319C>T
  • NR_165295.1:n.1319C>T
  • NR_165296.1:n.1319C>T
  • NR_165297.1:n.1319C>T
Protein change:
T386M
Molecular consequence:
  • NM_001377456.1:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.1157C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.1319C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.1319C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.1319C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.1319C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.1319C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Bardet-Biedl syndrome 2 (BBS2)
Identifiers:
MONDO: MONDO:0014432; MedGen: C2936863; Orphanet: 110; OMIM: 615981

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001464856Natera, Inc.no assertion criteria providedLikely benign
(Sep 3, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001464856.1

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

Last Updated: Oct 7, 2021

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