NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile) AND Bardet-Biedl syndrome

Clinical significance:Uncertain significance (Last evaluated: Oct 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)]

NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)

BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)
  • NC_000016.10:g.56497867G>A
  • NG_009312.1:g.27417C>T
  • NG_009312.2:g.27158C>T
  • NM_001377456.1:c.1673C>T
  • NM_031885.5:c.1673C>TMANE SELECT
  • NP_001364385.1:p.Thr558Ile
  • NP_114091.4:p.Thr558Ile
  • NC_000016.9:g.56531779G>A
  • NR_165293.1:n.1963C>T
  • NR_165294.1:n.1960C>T
  • NR_165295.1:n.1791C>T
  • NR_165296.1:n.1663C>T
  • NR_165297.1:n.1663C>T
Protein change:
Molecular consequence:
  • NM_001377456.1:c.1673C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.1673C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.1963C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.1960C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.1791C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.1663C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.1663C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]


Bardet-Biedl syndrome (BBS)
MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001543086Invitaecriteria provided, single submitter
Uncertain significance
(Oct 1, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing



BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR.

Am J Hum Genet. 2002 Jul;71(1):22-9. Epub 2002 May 15.

PubMed [citation]

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

Zaghloul NA, Liu Y, Gerdes JM, Gascue C, Oh EC, Leitch CC, Bromberg Y, Binkley J, Leibel RL, Sidow A, Badano JL, Katsanis N.

Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10602-7. doi: 10.1073/pnas.1000219107. Epub 2010 May 24.

PubMed [citation]
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001543086.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)


This sequence change replaces threonine with isoleucine at codon 558 of the BBS2 protein (p.Thr558Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs370581600, ExAC 0.002%). This variant has been observed to be homozygous or hemizygous in an individual who was not affected with Bardet-Biedl syndrome (PMID: 12016587). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BBS2 protein function (PMID: 20498079). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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