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NM_024649.5(BBS1):c.858C>T (p.Ile286=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 2017
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:
RCV000593860.12

Allele description [Variation Report for NM_024649.5(BBS1):c.858C>T (p.Ile286=)]

NM_024649.5(BBS1):c.858C>T (p.Ile286=)

Genes:
BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
ZDHHC24:zinc finger DHHC-type containing 24 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_024649.5(BBS1):c.858C>T (p.Ile286=)
HGVS:
  • NC_000011.10:g.66523483C>T
  • NG_009093.1:g.17836C>T
  • NM_001348571.2:c.*22-2017G>A
  • NM_024649.5:c.858C>TMANE SELECT
  • NP_078925.3:p.Ile286=
  • NC_000011.9:g.66290954C>T
  • NM_024649.4:c.858C>T
Links:
dbSNP: rs746775716
NCBI 1000 Genomes Browser:
rs746775716
Molecular consequence:
  • NM_001348571.2:c.*22-2017G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024649.5:c.858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000708155Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(May 2, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000708155.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024