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NM_024649.5(BBS1):c.1006C>G (p.Leu336Val) AND Bardet-Biedl syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 5, 2020
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:
RCV001830425.9

Allele description [Variation Report for NM_024649.5(BBS1):c.1006C>G (p.Leu336Val)]

NM_024649.5(BBS1):c.1006C>G (p.Leu336Val)

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.1006C>G (p.Leu336Val)
HGVS:
  • NC_000011.10:g.66523778C>G
  • NG_009093.1:g.18131C>G
  • NM_001348571.2:c.*22-2312G>C
  • NM_024649.5:c.1006C>GMANE SELECT
  • NP_078925.3:p.Leu336Val
  • NC_000011.9:g.66291249C>G
  • NM_024649.4:c.1006C>G
Protein change:
L336V
Links:
dbSNP: rs765494351
NCBI 1000 Genomes Browser:
rs765494351
Molecular consequence:
  • NM_001348571.2:c.*22-2312G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024649.5:c.1006C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bardet-Biedl syndrome 1 (BBS1)
Identifiers:
MONDO: MONDO:0008854; MedGen: C2936862; OMIM: 209900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002094750Natera, Inc.
no assertion criteria provided
Uncertain significance
(Oct 5, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002094750.1

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

Last Updated: Oct 26, 2024