NM_001288705.3(CSF1R):c.974T>G (p.Val325Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 19, 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:: RCV002639354.3

Allele description [Variation Report for NM_001288705.3(CSF1R):c.974T>G (p.Val325Gly)]

NM_001288705.3(CSF1R):c.974T>G (p.Val325Gly)

Gene:

CSF1R:colony stimulating factor 1 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_001288705.3(CSF1R):c.974T>G (p.Val325Gly)

HGVS:

NC_000005.10:g.150073409A>C
NG_012303.2:g.44964T>G
NM_001288705.3:c.974T>GMANE SELECT
NM_001349736.2:c.974T>G
NM_001375320.1:c.974T>G
NM_001375321.1:c.530T>G
NM_005211.4:c.974T>G
NP_001275634.1:p.Val325Gly
NP_001336665.1:p.Val325Gly
NP_001362249.1:p.Val325Gly
NP_001362250.1:p.Val177Gly
NP_005202.2:p.Val325Gly
NC_000005.9:g.149452972A>C
NR_109969.2:n.1101T>G
NR_164679.1:n.1030T>G

Protein change:

V177G

Molecular consequence:

NM_001288705.3:c.974T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001349736.2:c.974T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375320.1:c.974T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375321.1:c.530T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005211.4:c.974T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_109969.2:n.1101T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164679.1:n.1030T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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leucine-rich repeat-containing protein [Schizosaccharomyces pombe]
leucine-rich repeat-containing protein [Schizosaccharomyces pombe]
gi|19115279|ref|NP_594367.1|

Protein
Amphiblemma mildbraedii (7)
Nucleotide
SRD2 snRNA activating complex family protein [Arabidopsis thaliana]
SRD2 snRNA activating complex family protein [Arabidopsis thaliana]
Gene ID:839756

Gene
AT1G28560[sym] AND (alive[prop]) (1)
Gene
ENSCSAP00000008063 (0)
Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002974744	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 19, 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

SCV002974744

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 19, 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, SCV002974744.2

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

Description

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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CSF1R protein function. This variant has not been reported in the literature in individuals affected with CSF1R-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 325 of the CSF1R protein (p.Val325Gly).

#	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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