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

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 8, 2023
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:: RCV003421896.5

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004116747	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 8, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004116747

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 8, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004116747.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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