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NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) AND Bardet-Biedl syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 2023
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:
RCV003228891.1

Allele description [Variation Report for NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)]

NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)

Gene:
BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q27
Genomic location:
Preferred name:
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
HGVS:
  • NC_000004.12:g.122742955C>T
  • NG_021203.1:g.15254C>T
  • NM_001178007.2:c.1063C>T
  • NM_152618.3:c.1063C>TMANE SELECT
  • NP_001171478.1:p.Arg355Ter
  • NP_001171478.1:p.Arg355Ter
  • NP_689831.2:p.Arg355Ter
  • NC_000004.11:g.123664110C>T
  • NM_001178007.1:c.1063C>T
  • NM_152618.2:c.1063C>T
Protein change:
R355*; ARG355TER
Links:
OMIM: 610683.0001; dbSNP: rs121918327
NCBI 1000 Genomes Browser:
rs121918327
Molecular consequence:
  • NM_001178007.2:c.1063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152618.3:c.1063C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV003926581Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago
no assertion criteria provided
Pathogenic
(May 10, 2023) 		biparental, unknown, inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes5not providednot provided5not providedresearch
not providedunknownyes2not providednot provided2not providedresearch
not providedbiparentalyes1not providednot provided1not providedresearch

Details of each submission

From Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago, SCV003926581.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
2not provided1not providednot providedresearchnot provided
3not provided1not providednot providedresearchnot provided
4not provided1not providednot providedresearchnot provided
5not provided1not providednot providedresearchnot provided
6not provided1not providednot providedresearchnot provided
7not provided1not providednot providedresearchnot provided
8not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyes1not providednot provided1not providednot providednot provided
2inheritedyes1not providednot provided1not providednot providednot provided
3inheritedyes1not providednot provided1not providednot providednot provided
4inheritedyes1not providednot provided1not providednot providednot provided
5inheritedyes1not providednot provided1not providednot providednot provided
6unknownyes1not providednot provided1not providednot providednot provided
7unknownyes1not providednot provided1not providednot providednot provided
8inheritedyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024