NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Mar 1, 2026
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:: RCV000513736.33

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000610341	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (May 9, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004148816	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Mar 1, 2026)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000610341

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(May 9, 2017)

germline

clinical testing

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

SCV004148816

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Mar 1, 2026)

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	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	13	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 Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000610341.1

#	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	germline	not provided	not provided	not provided	not provided		not provided	0.007483	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004148816.21

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	13	not provided	not provided	clinical testing	not provided

Description

BBS12: BS2

#	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		13	not provided	not provided	not provided

Last Updated: May 9, 2026

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