NM_016122.3(CEP83):c.417+13del AND Nephronophthisis 18

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 20, 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:: RCV002097992.6

Allele description [Variation Report for NM_016122.3(CEP83):c.417+13del]

NM_016122.3(CEP83):c.417+13del

Gene:

CEP83:centrosomal protein 83 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q22

Genomic location:

Preferred name:

NM_016122.3(CEP83):c.417+13del

HGVS:

NC_000012.12:g.94403157del
NG_051825.1:g.61832del
NM_001042399.2:c.417+13del
NM_001346457.2:c.417+13del
NM_001346458.2:c.105+13del
NM_001346459.2:c.105+13del
NM_001346460.2:c.417+13del
NM_001346461.2:c.417+13del
NM_001346462.2:c.105+13del
NM_001368037.1:c.417+13del
NM_001368038.1:c.417+13del
NM_001368039.1:c.105+13del
NM_001368040.1:c.105+13del
NM_001368041.1:c.324+8540del
NM_001368042.1:c.12+8540del
NM_016122.3:c.417+13delMANE SELECT
NC_000012.11:g.94796933del

Links:

dbSNP: rs1261616795

NCBI 1000 Genomes Browser:

rs1261616795

Molecular consequence:

NM_001042399.2:c.417+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001346457.2:c.417+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001346458.2:c.105+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001346459.2:c.105+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001346460.2:c.417+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001346461.2:c.417+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001346462.2:c.105+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368037.1:c.417+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368038.1:c.417+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368039.1:c.105+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368040.1:c.105+13del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368041.1:c.324+8540del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368042.1:c.12+8540del - intron variant - [Sequence Ontology: SO:0001627]
NM_016122.3:c.417+13del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Nephronophthisis 18 (NPHP18)
Identifiers:: MONDO: MONDO:0014374; MedGen: C3890591; Orphanet: 655; OMIM: 615862

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002388351	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (May 20, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002388351

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(May 20, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002388351.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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