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NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 15, 2022
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:
RCV001731689.3

Allele description [Variation Report for NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)]

NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)

Gene:
BBS10:Bardet-Biedl syndrome 10 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q21.2
Genomic location:
Preferred name:
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
HGVS:
  • NC_000012.11:g.76739645_76739646del
  • NC_000012.12:g.76345866_76345867del
  • NG_016357.1:g.7577_7578del
  • NM_024685.4:c.2119_2120delMANE SELECT
  • NP_078961.3:p.Thr706_Val707insTer
  • LRG_1255t1:c.2119_2120del
  • LRG_1255:g.7577_7578del
  • LRG_1255p1:p.Thr706_Val707insTer
  • NC_000012.11:g.76739645_76739646del
  • NC_000012.11:g.76739645_76739646delAC
  • NC_000012.11:g.76739646_76739647del
  • NM_024685.3:c.2119_2120del
  • NM_024685.3:c.2119_2120delGT
  • p.Val707X
Links:
dbSNP: rs775950661
NCBI 1000 Genomes Browser:
rs775950661
Molecular consequence:
  • NM_024685.4:c.2119_2120del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001982879GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Sep 15, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001982879.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 17 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); This variant is associated with the following publications: (PMID: 21157496, 31293383, 31963381, 16582908, 25982971, 30609409, 22773737, 27659767, 21209035, 27486776, 20472660, 34940782, 35112343)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024