NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) AND Bardet-Biedl syndrome 1

Germline classification:: Benign (2 submissions)
Last evaluated:: Dec 22, 2014
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:: RCV000709646.11

Allele description [Variation Report for NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)]

NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)

Gene:

BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q27

Genomic location:

Preferred name:

NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)

HGVS:

NC_000004.12:g.122742008T>C
NG_021203.1:g.14307T>C
NM_001178007.2:c.116T>C
NM_152618.3:c.116T>CMANE SELECT
NP_001171478.1:p.Ile39Thr
NP_001171478.1:p.Ile39Thr
NP_689831.2:p.Ile39Thr
NP_689831.2:p.Ile39Thr
NC_000004.11:g.123663163T>C
NM_001178007.1:c.116T>C
NM_152618.2:c.116T>C
Q6ZW61:p.Ile39Thr

Protein change:

I39T

Links:

UniProtKB: Q6ZW61#VAR_034919; dbSNP: rs138036823

Molecular consequence:

NM_001178007.2:c.116T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_152618.3:c.116T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bardet-Biedl syndrome 1 (BBS1)
Identifiers:: MONDO: MONDO:0008854; MedGen: C2936862; OMIM: 209900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000743646	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Benign (Dec 22, 2014)	germline	clinical testing	Citation Link,
SCV000745765	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided (ACGS Guidelines, 2013)	Likely benign (Apr 19, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000743646

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Benign
(Dec 22, 2014)

germline

clinical testing

Citation Link,

SCV000745765

Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus

no assertion criteria provided

(ACGS Guidelines, 2013)

Likely benign
(Apr 19, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743646.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV000745765.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 9, 2026

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