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NM_015681.6(B9D1):c.63+23G>A AND Joubert syndrome 27

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV001553892.2

Allele description [Variation Report for NM_015681.6(B9D1):c.63+23G>A]

NM_015681.6(B9D1):c.63+23G>A

Genes:
LOC130060455:ATAC-STARR-seq lymphoblastoid silent region 8288 [Gene]
B9D1:B9 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_015681.6(B9D1):c.63+23G>A
HGVS:
  • NC_000017.11:g.19362484C>T
  • NG_031885.2:g.20710G>A
  • NM_001321214.2:c.63+23G>A
  • NM_001321215.3:c.63+23G>A
  • NM_001321216.2:c.63+23G>A
  • NM_001321217.2:c.63+23G>A
  • NM_001321218.2:c.63+23G>A
  • NM_001321219.2:c.63+23G>A
  • NM_001330149.2:c.63+23G>A
  • NM_001368769.2:c.-297-2096G>A
  • NM_015681.6:c.63+23G>AMANE SELECT
  • LRG_686t1:c.63+23G>A
  • LRG_686:g.20710G>A
  • NC_000017.10:g.19265797C>T
  • NM_015681.3:c.63+23G>A
  • NM_015681.5:c.63+23G>A
Links:
dbSNP: rs10445411
NCBI 1000 Genomes Browser:
rs10445411
Molecular consequence:
  • NM_001321214.2:c.63+23G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321215.3:c.63+23G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321216.2:c.63+23G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321217.2:c.63+23G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321218.2:c.63+23G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321219.2:c.63+23G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330149.2:c.63+23G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368769.2:c.-297-2096G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015681.6:c.63+23G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Joubert syndrome 27 (JBTS27)
Identifiers:
MONDO: MONDO:0014927; MedGen: C4310706; OMIM: 617120

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001774980Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 14, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001774980.1

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

Last Updated: Sep 29, 2024