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NM_031885.5(BBS2):c.367A>G (p.Ile123Val) AND not specified

Germline classification:
Benign (2 submissions)
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:
RCV000241605.8

Allele description [Variation Report for NM_031885.5(BBS2):c.367A>G (p.Ile123Val)]

NM_031885.5(BBS2):c.367A>G (p.Ile123Val)

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.367A>G (p.Ile123Val)
HGVS:
  • NC_000016.10:g.56511263T>C
  • NG_009312.2:g.13762A>G
  • NM_001377456.1:c.367A>G
  • NM_031885.5:c.367A>GMANE SELECT
  • NP_001364385.1:p.Ile123Val
  • NP_114091.3:p.Ile123Val
  • NP_114091.4:p.Ile123Val
  • NC_000016.9:g.56545175T>C
  • NG_009312.1:g.14021A>G
  • NM_031885.2:c.367A>G
  • NM_031885.3:c.367A>G
  • NM_031885.4:c.367A>G
  • NR_165293.1:n.529A>G
  • NR_165294.1:n.529A>G
  • NR_165295.1:n.529A>G
  • NR_165296.1:n.529A>G
  • NR_165297.1:n.529A>G
Protein change:
I123V
Links:
dbSNP: rs11373
NCBI 1000 Genomes Browser:
rs11373
Molecular consequence:
  • NM_001377456.1:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031885.5:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165293.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.529A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000314812PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

SCV001953952Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot 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 PreventionGenetics, part of Exact Sciences, SCV000314812.1

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001953952.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024