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NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 28, 2018
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:
RCV000598549.2

Allele description [Variation Report for NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs)]

NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs)

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.2137_2140del (p.Lys713fs)
HGVS:
  • NC_000012.12:g.76345847_76345850del
  • NG_016357.1:g.7595_7598del
  • NM_024685.4:c.2137_2140delMANE SELECT
  • NP_078961.3:p.Lys713fs
  • LRG_1255t1:c.2137_2140del
  • LRG_1255:g.7595_7598del
  • LRG_1255p1:p.Lys713fs
  • NC_000012.11:g.76739627_76739630del
  • NM_024685.3:c.2137_2140delAAAG
Protein change:
K713fs
Links:
dbSNP: rs1555202538
NCBI 1000 Genomes Browser:
rs1555202538
Molecular consequence:
  • NM_024685.4:c.2137_2140del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000710067GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 28, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000710067.2

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

Description

The c.2137_2140delAAAG variant has been reported previously in an individual with Bardet-Biedl syndrome who harbored an additional variant in both the BBS10 and BBS2 genes; however segregation analysis was not provided (Esposito et al., 2017). The c.2137_2140delAAAG variant causes a frameshift starting with codon Lysine 713, changes this amino acid to a Phenylalanine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Lys713PhefsX16. This variant results in the last 11 amino acids of the BBS10 protein being lost and replaced by 15 incorrect amino acids. The c.2137_2140delAAAG variant is not observed in large population cohorts (Lek et al., 2016).

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

Last Updated: Dec 30, 2023