NM_024548.4(CEP97):c.1403G>T (p.Arg468Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 30, 2022
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:: RCV002628642.3

Allele description [Variation Report for NM_024548.4(CEP97):c.1403G>T (p.Arg468Ile)]

NM_024548.4(CEP97):c.1403G>T (p.Arg468Ile)

Gene:

CEP97:centrosomal protein 97 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q12.3

Genomic location:

Preferred name:

NM_024548.4(CEP97):c.1403G>T (p.Arg468Ile)

HGVS:

NC_000003.12:g.101758009G>T
NM_001303401.2:c.1226G>T
NM_001410784.1:c.1301G>T
NM_001410785.1:c.1124G>T
NM_024548.2:c.1403G>T
NM_024548.4:c.1403G>TMANE SELECT
NP_001290330.1:p.Arg409Ile
NP_001397713.1:p.Arg434Ile
NP_001397714.1:p.Arg375Ile
NP_078824.2:p.Arg468Ile
NC_000003.11:g.101476853G>T

Protein change:

R375I

Molecular consequence:

NM_001303401.2:c.1226G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001410784.1:c.1301G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001410785.1:c.1124G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024548.4:c.1403G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

b3galt6 [Anguilla anguilla]
b3galt6 [Anguilla anguilla]
Gene ID:118210577

Gene

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
SCV003514983	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 30, 2022)	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

SCV003514983

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 30, 2022)

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, SCV003514983.2

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

Description

This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 468 of the CEP97 protein (p.Arg468Ile). This variant is present in population databases (rs150586600, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CEP97-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Nov 3, 2024

ClinVar

Relating variation to medicine