NM_016122.3(CEP83):c.1634G>A (p.Arg545His) AND Nephronophthisis 18

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 13, 2023
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:: RCV000981725.8

Allele description [Variation Report for NM_016122.3(CEP83):c.1634G>A (p.Arg545His)]

NM_016122.3(CEP83):c.1634G>A (p.Arg545His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q22

Genomic location:

Preferred name:

NM_016122.3(CEP83):c.1634G>A (p.Arg545His)

HGVS:

NC_000012.12:g.94331773C>T
NG_051825.1:g.133216G>A
NM_001042399.2:c.1634G>A
NM_001346457.2:c.1634G>A
NM_001346458.2:c.1322G>A
NM_001346459.2:c.1322G>A
NM_001368037.1:c.1634G>A
NM_001368038.1:c.1634G>A
NM_001368039.1:c.1322G>A
NM_001368040.1:c.1322G>A
NM_001368041.1:c.1409G>A
NM_016122.3:c.1634G>AMANE SELECT
NP_001035858.1:p.Arg545His
NP_001333386.1:p.Arg545His
NP_001333387.1:p.Arg441His
NP_001333388.1:p.Arg441His
NP_001354966.1:p.Arg545His
NP_001354967.1:p.Arg545His
NP_001354968.1:p.Arg441His
NP_001354969.1:p.Arg441His
NP_001354970.1:p.Arg470His
NP_057206.2:p.Arg545His
NC_000012.11:g.94725549C>T
NM_016122.2:c.1634G>A
NR_160431.1:n.1358G>A
NR_160432.1:n.2379G>A

Protein change:

R441H

Links:

dbSNP: rs187309637

NCBI 1000 Genomes Browser:

rs187309637

Molecular consequence:

NM_001042399.2:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346457.2:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346458.2:c.1322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346459.2:c.1322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368037.1:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368038.1:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368039.1:c.1322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368040.1:c.1322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368041.1:c.1409G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_016122.3:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_160431.1:n.1358G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160432.1:n.2379G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001129715	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Oct 13, 2023)	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

SCV001129715

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Oct 13, 2023)

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, SCV001129715.5

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine