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NM_031885.5(BBS2):c.472-10T>C AND not specified

Germline classification:
Benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001701325.2

Allele description [Variation Report for NM_031885.5(BBS2):c.472-10T>C]

NM_031885.5(BBS2):c.472-10T>C

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.472-10T>C
HGVS:
  • NC_000016.10:g.56510931A>G
  • NG_009312.2:g.14094T>C
  • NM_001377456.1:c.472-10T>C
  • NM_031885.5:c.472-10T>CMANE SELECT
  • NC_000016.9:g.56544843A>G
  • NG_009312.1:g.14353T>C
  • NM_031885.3:c.472-10T>C
Links:
dbSNP: rs138714256
NCBI 1000 Genomes Browser:
rs138714256
Molecular consequence:
  • NM_001377456.1:c.472-10T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_031885.5:c.472-10T>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001925510Clinical Genetics, Academic Medical Center - 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

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001925510.1

#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: Mar 5, 2024