NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter) AND Bardet-Biedl syndrome 10

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 10, 2017
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:: RCV000666498.1

Allele description [Variation Report for NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)]

NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)

Gene:

BBS10:Bardet-Biedl syndrome 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.2

Genomic location:

Preferred name:

NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)

HGVS:

NC_000012.12:g.76346156A>C
NG_016357.1:g.7287T>G
NM_024685.4:c.1829T>GMANE SELECT
NP_078961.3:p.Leu610Ter
LRG_1255t1:c.1829T>G
LRG_1255:g.7287T>G
LRG_1255p1:p.Leu610Ter
NC_000012.11:g.76739936A>C
NM_024685.3:c.1829T>G

Protein change:

L610*

Links:

dbSNP: rs1555202572

NCBI 1000 Genomes Browser:

rs1555202572

Molecular consequence:

NM_024685.4:c.1829T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Bardet-Biedl syndrome 10 (BBS10)
Identifiers:: MONDO: MONDO:0014438; MedGen: C1859568; Orphanet: 110; OMIM: 615987

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790803	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 10, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790803

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Apr 10, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000790803.1

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

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine