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NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn) AND Bardet-Biedl syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 11, 2022
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:
RCV002624230.2

Allele description [Variation Report for NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)]

NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)

Gene:
BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)
HGVS:
  • NC_000015.10:g.72731596_72731597inv
  • NG_009416.3:g.50391_50392inv
  • NM_001252678.2:c.390_391inv
  • NM_001320665.2:c.837_838inv
  • NM_033028.5:c.906_907invMANE SELECT
  • NP_001239607.1:p.Asp131Asn
  • NP_001307594.1:p.Asp280Asn
  • NP_149017.2:p.Asp303Asn
  • NC_000015.9:g.73023937_73023938delinsCA
  • NC_000015.9:g.73023937_73023938inv
  • NG_009416.2:g.50413G>A
  • NR_045565.2:n.985_986inv
  • NR_045566.2:n.1240_1241inv
Protein change:
D131N
Molecular consequence:
  • NM_001252678.2:c.390_391inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320665.2:c.837_838inv - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033028.5:c.906_907inv - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045565.2:n.985_986inv - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_045566.2:n.1240_1241inv - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Bardet-Biedl syndrome (BBS)
Identifiers:
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)
OriginMethodCitations
SCV003513726Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Feb 11, 2022)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003513726.1

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

Description

This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 303 of the BBS4 protein (p.Asp303Asn). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with BBS4-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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

Last Updated: Sep 29, 2024