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NM_031885.5(BBS2):c.508G>A (p.Asp170Asn) AND not provided

Germline classification:
Likely pathogenic (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:
RCV000171247.3

Allele description [Variation Report for NM_031885.5(BBS2):c.508G>A (p.Asp170Asn)]

NM_031885.5(BBS2):c.508G>A (p.Asp170Asn)

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.508G>A (p.Asp170Asn)
HGVS:
  • NC_000016.10:g.56510885C>T
  • NG_009312.2:g.14140G>A
  • NM_001377456.1:c.508G>A
  • NM_031885.5:c.508G>AMANE SELECT
  • NP_001364385.1:p.Asp170Asn
  • NP_114091.4:p.Asp170Asn
  • NC_000016.9:g.56544797C>T
  • NG_009312.1:g.14399G>A
  • NM_031885.3:c.508G>A
  • NR_165293.1:n.670G>A
  • NR_165294.1:n.670G>A
  • NR_165295.1:n.670G>A
  • NR_165296.1:n.670G>A
  • NR_165297.1:n.670G>A
Protein change:
D170N
Links:
dbSNP: rs786205498
NCBI 1000 Genomes Browser:
rs786205498
Molecular consequence:
  • NM_001377456.1:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.670G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.670G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.670G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.670G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.670G>A - 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
SCV000221444Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV000221444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024