NM_025103.4(IFT74):c.69G>C (p.Arg23Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 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:: RCV003022498.2

Allele description [Variation Report for NM_025103.4(IFT74):c.69G>C (p.Arg23Ser)]

NM_025103.4(IFT74):c.69G>C (p.Arg23Ser)

Gene:

IFT74:intraflagellar transport 74 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.2

Genomic location:

Preferred name:

NM_025103.4(IFT74):c.69G>C (p.Arg23Ser)

HGVS:

NC_000009.12:g.26962036G>C
NG_053083.1:g.20047G>C
NM_001099222.3:c.69G>C
NM_001099223.3:c.69G>C
NM_001099224.3:c.69G>C
NM_001349928.2:c.69G>C
NM_025103.4:c.69G>CMANE SELECT
NP_001092692.1:p.Arg23Ser
NP_001092693.1:p.Arg23Ser
NP_001092694.1:p.Arg23Ser
NP_001336857.1:p.Arg23Ser
NP_079379.2:p.Arg23Ser
NC_000009.11:g.26962034G>C

Protein change:

R23S

Molecular consequence:

NM_001099222.3:c.69G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001099223.3:c.69G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001099224.3:c.69G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349928.2:c.69G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_025103.4:c.69G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Community Pharmacy Services
Community Pharmacy Services
Total pharmaceutical services provided to the public through community pharmacies.<br/>Year introduced: 1968

MeSH
Legislation, Pharmacy
Legislation, Pharmacy
Laws and regulations, pertaining to the field of pharmacy, proposed for enactment or enacted by a legislative body.<br/>Year introduced: 1968

MeSH
Genetic Counseling
Genetic Counseling
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make ...<br/>Year introduced: 1973

MeSH

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
SCV003318750	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 28, 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

SCV003318750

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 28, 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, SCV003318750.1

#	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 serine, which is neutral and polar, at codon 23 of the IFT74 protein (p.Arg23Ser). This variant is present in population databases (rs775728464, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with IFT74-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 disruptive. 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: Sep 29, 2024

ClinVar

Relating variation to medicine