NM_033028.5(BBS4):c.437T>C (p.Ile146Thr) AND Bardet-Biedl syndrome 4

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 18, 2022
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:: RCV002493900.2

Allele description [Variation Report for NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)]

NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)

Gene:

BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)

HGVS:

NC_000015.10:g.72722825T>C
NG_009416.2:g.41641T>C
NM_001252678.2:c.-80T>C
NM_001320665.2:c.437T>C
NM_033028.5:c.437T>CMANE SELECT
NP_001307594.1:p.Ile146Thr
NP_149017.2:p.Ile146Thr
NC_000015.9:g.73015166T>C
NM_033028.3:c.437T>C
NM_033028.4:c.437T>C
NR_045565.2:n.516T>C
NR_045566.2:n.771T>C

Protein change:

I146T

Links:

dbSNP: rs769886837

NCBI 1000 Genomes Browser:

rs769886837

Molecular consequence:

NM_001252678.2:c.-80T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001320665.2:c.437T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033028.5:c.437T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_045565.2:n.516T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_045566.2:n.771T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Bardet-Biedl syndrome 4 (BBS4)
Identifiers:: MONDO: MONDO:0014433; MedGen: C2936864; Orphanet: 110; OMIM: 615982

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002790569	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 18, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003925378	New York Genome Center	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (Mar 25, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002790569

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 18, 2022)

unknown

clinical testing

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

SCV003925378

New York Genome Center

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(Mar 25, 2022)

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	unknown	1	not provided	not provided	1	not provided	clinical testing
not provided	unknown	unknown	not provided	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 Fulgent Genetics, Fulgent Genetics, SCV002790569.1

#	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 New York Genome Center, SCV003925378.1

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

Last Updated: Jan 13, 2025

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