U.S. flag

An official website of the United States government

NM_031885.5(BBS2):c.505T>C (p.Cys169Arg) AND Bardet-Biedl syndrome 2

Germline classification:
Uncertain significance (1 submission)
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:
RCV004584968.1

Allele description [Variation Report for NM_031885.5(BBS2):c.505T>C (p.Cys169Arg)]

NM_031885.5(BBS2):c.505T>C (p.Cys169Arg)

Gene:
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_031885.5(BBS2):c.505T>C (p.Cys169Arg)
HGVS:
  • NC_000016.10:g.56510888A>G
  • NG_009312.2:g.14137T>C
  • NM_001377456.1:c.505T>C
  • NM_031885.5:c.505T>CMANE SELECT
  • NP_001364385.1:p.Cys169Arg
  • NP_114091.4:p.Cys169Arg
  • NC_000016.9:g.56544800A>G
  • NR_165293.1:n.667T>C
  • NR_165294.1:n.667T>C
  • NR_165295.1:n.667T>C
  • NR_165296.1:n.667T>C
  • NR_165297.1:n.667T>C
Protein change:
C169R
Molecular consequence:
  • NM_001377456.1:c.505T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.505T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.667T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.667T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.667T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.667T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.667T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Bardet-Biedl syndrome 2 (BBS2)
Identifiers:
MONDO: MONDO:0014432; MedGen: C2936863; Orphanet: 110; OMIM: 615981

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005068377Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancebiparentalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyes1not providednot providednot providednot providedclinical 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 Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV005068377.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024