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NM_031885.5(BBS2):c.661del (p.Leu221fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 23, 2020
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:
RCV001268712.3

Allele description [Variation Report for NM_031885.5(BBS2):c.661del (p.Leu221fs)]

NM_031885.5(BBS2):c.661del (p.Leu221fs)

Gene:
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_031885.5(BBS2):c.661del (p.Leu221fs)
HGVS:
  • NC_000016.10:g.56506178del
  • NG_009312.2:g.18849del
  • NM_001377456.1:c.661del
  • NM_031885.5:c.661delMANE SELECT
  • NP_001364385.1:p.Leu221fs
  • NP_114091.4:p.Leu221fs
  • NC_000016.9:g.56540090del
  • NG_009312.1:g.19108del
  • NM_031885.3:c.661delC
  • NM_031885.4:c.661delC
  • NR_165293.1:n.823del
  • NR_165294.1:n.823del
  • NR_165295.1:n.823del
  • NR_165296.1:n.823del
  • NR_165297.1:n.823del
Protein change:
L221fs
Links:
dbSNP: rs770258677
NCBI 1000 Genomes Browser:
rs770258677
Molecular consequence:
  • NM_001377456.1:c.661del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_031885.5:c.661del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_165293.1:n.823del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.823del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.823del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.823del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.823del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001447841Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 23, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot provided1not 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 Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001447841.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024