NM_176824.3(BBS7):c.389_390del (p.Asn130fs) AND Bardet-Biedl syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 24, 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:: RCV000200204.9

Allele description [Variation Report for NM_176824.3(BBS7):c.389_390del (p.Asn130fs)]

NM_176824.3(BBS7):c.389_390del (p.Asn130fs)

Gene:

BBS7:Bardet-Biedl syndrome 7 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q27

Genomic location:

Preferred name:

NM_176824.3(BBS7):c.389_390del (p.Asn130fs)

HGVS:

NC_000004.12:g.121859130_121859131del
NG_009111.1:g.16357_16358del
NM_018190.4:c.389_390del
NM_176824.3:c.389_390delMANE SELECT
NP_060660.2:p.Asn130fs
NP_789794.1:p.Asn130fs
NC_000004.11:g.122780285_122780286del
NM_176824.2:c.389_390del
NM_176824.2:c.389_390delAC
p.Asn130ThrfsX4

Protein change:

N130fs

Links:

dbSNP: rs863224530

NCBI 1000 Genomes Browser:

rs863224530

Molecular consequence:

NM_018190.4:c.389_390del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_176824.3:c.389_390del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000253973	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 24, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 12567324, 19402160, 21209035, 31196119, 28492532
SCV000839580	Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University - French fetal BBS cohort	no assertion criteria provided	Pathogenic (Sep 15, 2018)	germline	provider interpretation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000253973

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 24, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV000839580

Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University - French fetal BBS cohort

no assertion criteria provided

Pathogenic
(Sep 15, 2018)

germline

provider interpretation

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
Asia	germline	yes	not provided	not provided	not provided	not provided	not provided	provider interpretation

Citations

PubMed

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N.

Am J Hum Genet. 2003 Mar;72(3):650-8. Epub 2003 Feb 3.

PubMed [citation]

PMID:: 12567324
PMCID:: PMC1180240

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.

Bin J, Madhavan J, Ferrini W, Mok CA, Billingsley G, Héon E.

Hum Mutat. 2009 Jul;30(7):E737-46. doi: 10.1002/humu.21040.

PubMed [citation]

PMID:: 19402160

See all PubMed Citations (6)

Details of each submission

From Invitae, SCV000253973.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Asn130Thrfs*4) in the BBS7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS7 are known to be pathogenic (PMID: 12567324, 19402160, 21209035, 31196119). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with BBS7-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 216138). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified 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

From Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University - French fetal BBS cohort, SCV000839580.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asia	not provided	not provided	not provided	provider interpretation	PubMed (1)

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

Last Updated: Mar 5, 2024

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