U.S. flag

An official website of the United States government

NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) AND Bardet-Biedl syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 19, 2024
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:
RCV000614851.8

Allele description

NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)

Gene:
BBS9:Bardet-Biedl syndrome 9 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
HGVS:
  • NC_000007.14:g.33383753_33383756del
  • NG_009306.2:g.259510_259513del
  • NM_001033604.2:c.1772_1775del
  • NM_001033605.2:c.1862_1865del
  • NM_001348036.1:c.1877_1880del
  • NM_001348037.3:c.1511_1514del
  • NM_001348038.3:c.1604_1607del
  • NM_001348039.3:c.1499_1502del
  • NM_001348040.3:c.1757_1760del
  • NM_001348041.4:c.1877_1880del
  • NM_001348042.3:c.1742_1745del
  • NM_001348043.3:c.1877_1880del
  • NM_001348044.3:c.1406_1409del
  • NM_001348045.3:c.1511_1514del
  • NM_001348046.3:c.1511_1514del
  • NM_001362679.1:c.1877_1880del
  • NM_014451.4:c.1757_1760del
  • NM_198428.3:c.1877_1880delMANE SELECT
  • NP_001028776.1:p.Lys591fs
  • NP_001028777.1:p.Lys621fs
  • NP_001334965.1:p.Lys626fs
  • NP_001334966.1:p.Lys504fs
  • NP_001334967.1:p.Lys535fs
  • NP_001334968.1:p.Lys500fs
  • NP_001334969.1:p.Lys586fs
  • NP_001334970.1:p.Lys626fs
  • NP_001334971.1:p.Lys581fs
  • NP_001334972.1:p.Lys626fs
  • NP_001334973.1:p.Lys469fs
  • NP_001334974.1:p.Lys504fs
  • NP_001334975.1:p.Lys504fs
  • NP_001349608.1:p.Lys626fs
  • NP_055266.2:p.Lys586fs
  • NP_940820.1:p.Lys626fs
  • NC_000007.13:g.33423364_33423367del
  • NC_000007.13:g.33423365_33423368del
  • NM_198428.2:c.1877_1880del
  • NM_198428.2:c.1877_1880delAACA
  • NR_145411.1:n.2156_2159del
  • NR_145412.1:n.2348_2351del
  • NR_145413.3:n.2510_2513del
Protein change:
K469fs
Links:
OMIM: 607968.0007; dbSNP: rs606231137
NCBI 1000 Genomes Browser:
rs606231137
Molecular consequence:
  • NM_001033604.2:c.1772_1775del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001033605.2:c.1862_1865del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348036.1:c.1877_1880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348037.3:c.1511_1514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348038.3:c.1604_1607del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348039.3:c.1499_1502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348040.3:c.1757_1760del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348041.4:c.1877_1880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348042.3:c.1742_1745del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348043.3:c.1877_1880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348044.3:c.1406_1409del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348045.3:c.1511_1514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348046.3:c.1511_1514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362679.1:c.1877_1880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014451.4:c.1757_1760del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198428.3:c.1877_1880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_145411.1:n.2156_2159del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_145412.1:n.2348_2351del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_145413.3:n.2510_2513del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Bardet-Biedl syndrome (BBS)
Identifiers:
MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000832371Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 19, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, et al.

Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23.

PubMed [citation]
PMID:
20177705
PMCID:
PMC3638942

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC.

Am J Hum Genet. 2005 Dec;77(6):1021-33. Epub 2005 Oct 26.

PubMed [citation]
PMID:
16380913
PMCID:
PMC1285160
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000832371.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Lys626Argfs*22) in the BBS9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS9 are known to be pathogenic (PMID: 16380913, 20177705). This variant is present in population databases (rs774006614, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with Bardet-Biedl syndrome (PMID: 16380913). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2662). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 16, 2024