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NM_031885.5(BBS2):c.132T>A (p.Asn44Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2016
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:
RCV000503385.6

Allele description [Variation Report for NM_031885.5(BBS2):c.132T>A (p.Asn44Lys)]

NM_031885.5(BBS2):c.132T>A (p.Asn44Lys)

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.132T>A (p.Asn44Lys)
HGVS:
  • NC_000016.10:g.56514666A>T
  • NG_009312.2:g.10359T>A
  • NM_001377456.1:c.132T>A
  • NM_031885.5:c.132T>AMANE SELECT
  • NP_001364385.1:p.Asn44Lys
  • NP_114091.4:p.Asn44Lys
  • NC_000016.9:g.56548578A>T
  • NG_009312.1:g.10618T>A
  • NM_031885.3:c.132T>A
  • NR_165293.1:n.294T>A
  • NR_165294.1:n.294T>A
  • NR_165295.1:n.294T>A
  • NR_165296.1:n.294T>A
  • NR_165297.1:n.294T>A
Protein change:
N44K
Links:
dbSNP: rs1555523987
NCBI 1000 Genomes Browser:
rs1555523987
Molecular consequence:
  • NM_001377456.1:c.132T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.132T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.294T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.294T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.294T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.294T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.294T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000593600Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 14, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot 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 Genetic Services Laboratory, University of Chicago, SCV000593600.1

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

Last Updated: Apr 9, 2023