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NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) AND BBS9-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 8, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003421896.6

Allele description [Variation Report for NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)]

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:
BBS9-related disorder
Synonyms:
BBS9-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004116747PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Dec 8, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004116747.3

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

Description

The BBS9 c.1877_1880delAACA variant is predicted to result in a frameshift and premature protein termination (p.Lys626Argfs*22). This variant has been reported in the homozygous and compound heterozygous states in individuals with Bardet-Biedl syndrome (Nishimura et al. 2005. PubMed ID: 16380913; Meyer et al. 2022. PubMed ID: 35112343). This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in BBS9 are expected to be pathogenic. Given the evidence, we interpret this variant as pathogenic.

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

Last Updated: Nov 3, 2024