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NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del) AND Bardet-Biedl syndrome 12

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 2, 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:
RCV000670441.1

Allele description [Variation Report for NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del)]

NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del)

Gene:
BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
4q27
Genomic location:
Preferred name:
NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del)
HGVS:
  • NC_000004.12:g.122742521ACA[1]
  • NG_021203.1:g.14820ACA[1]
  • NM_001178007.2:c.629ACA[1]
  • NM_152618.3:c.629ACA[1]MANE SELECT
  • NP_001171478.1:p.Asn211del
  • NP_689831.2:p.Asn211del
  • NC_000004.11:g.123663676ACA[1]
  • NM_152618.2:c.632_634delACA
Protein change:
N211del
Links:
dbSNP: rs1553941287
NCBI 1000 Genomes Browser:
rs1553941287
Molecular consequence:
  • NM_001178007.2:c.629ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_152618.3:c.629ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Bardet-Biedl syndrome 12 (BBS12)
Identifiers:
MONDO: MONDO:0014440; MedGen: C1859570; Orphanet: 110; OMIM: 615989

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000795293Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Nov 2, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000795293.1

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

Last Updated: Apr 23, 2022