NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) AND Bardet-Biedl syndrome 10

Germline classification:: Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:: Oct 18, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000169317.6

Allele description [Variation Report for NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)]

NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)

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.1241T>C (p.Leu414Ser)

HGVS:

NC_000012.12:g.76346744A>G
NG_016357.1:g.6699T>C
NM_024685.4:c.1241T>CMANE SELECT
NP_078961.3:p.Leu414Ser
LRG_1255t1:c.1241T>C
LRG_1255:g.6699T>C
LRG_1255p1:p.Leu414Ser
NC_000012.11:g.76740524A>G
NM_024685.3:c.1241T>C
Q8TAM1:p.Leu414Ser

Protein change:

L414S

Links:

UniProtKB: Q8TAM1#VAR_026403; dbSNP: rs786204575

NCBI 1000 Genomes Browser:

rs786204575

Molecular consequence:

NM_024685.4:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000220646	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Aug 27, 2014)	unknown	literature only	PubMed (9) [See all records that cite these PMIDs] 20177705, 21157496, 20472660, 22773737, 22958920, 16582908, 21517826, 20876674, 21344540 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015), Citation Link,
SCV002091768	Natera, Inc.	no assertion criteria provided	Pathogenic (Jan 4, 2021)	germline	clinical testing
SCV002805335	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 19, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004217413	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 18, 2023)	unknown	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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, literature only

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

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Piñeiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL.

Eur J Hum Genet. 2011 Apr;19(4):485-8. doi: 10.1038/ejhg.2010.207. Epub 2010 Dec 15.

PubMed [citation]

PMID:: 21157496
PMCID:: PMC3060323

See all PubMed Citations (10)

Details of each submission

From Counsyl, SCV000220646.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (9)

#	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

From Natera, Inc., SCV002091768.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002805335.1

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

#	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

From Baylor Genetics, SCV004217413.1

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

#	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: Mar 16, 2024

ClinVar

Relating variation to medicine