NM_031885.4(BBS2):c.805-20A>G AND Bardet-Biedl syndrome 1

Clinical significance:Benign/Likely benign (Last evaluated: Apr 19, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000709638.2

Allele description [Variation Report for NM_031885.4(BBS2):c.805-20A>G]

NM_031885.4(BBS2):c.805-20A>G

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.805-20A>G
HGVS:
  • NC_000016.10:g.56502828T>C
  • NG_009312.1:g.22456A>G
  • NM_031885.4:c.805-20A>G
  • NC_000016.9:g.56536740T>C
  • NM_031885.3:c.805-20A>G
Links:
dbSNP: rs41280892
NCBI 1000 Genomes Browser:
rs41280892
Molecular consequence:
  • NM_031885.4:c.805-20A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Bardet-Biedl syndrome 1 (BBS1)
Identifiers:
MONDO: MONDO:0008854; MedGen: C2936862; OMIM: 209900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000743750Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensuscriteria provided, single submitter
Likely benign
(Mar 27, 2015)
germlineclinical testing

Citation Link,

SCV000745824Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensuscriteria provided, single submitter
Benign
(Apr 19, 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 Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743750.1

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV000745824.1

#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: Sep 29, 2021

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