NM_018718.3(CEP41):c.277+10del AND Joubert syndrome 15

Clinical significance:Likely benign (Last evaluated: Feb 15, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001454210.1

Allele description [Variation Report for NM_018718.3(CEP41):c.277+10del]

NM_018718.3(CEP41):c.277+10del

Gene:
CEP41:centrosomal protein 41 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q32.2
Genomic location:
Preferred name:
NM_018718.3(CEP41):c.277+10del
HGVS:
  • NC_000007.14:g.130411113del
  • NG_032164.2:g.35099del
  • NM_001257158.2:c.277+10del
  • NM_001257159.2:c.229+10del
  • NM_018718.3:c.277+10delMANE SELECT
  • NC_000007.13:g.130050953del
  • NC_000007.13:g.130050954del
Links:
Molecular consequence:
  • NM_001257158.2:c.277+10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257159.2:c.229+10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018718.3:c.277+10del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Joubert syndrome 15 (JBTS15)
Identifiers:
MONDO: MONDO:0013763; MedGen: C3280897; Orphanet: 475; OMIM: 614464

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001657930Invitaecriteria provided, single submitter
Likely benign
(Feb 15, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001657930.1

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

Last Updated: Jun 14, 2021

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