NM_001124759.5(FRG2C):c.278A>G (p.Gln93Arg) AND not specified

Germline classification:: Benign (1 submission)
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:: RCV001261632.1

Allele description [Variation Report for NM_001124759.5(FRG2C):c.278A>G (p.Gln93Arg)]

NM_001124759.5(FRG2C):c.278A>G (p.Gln93Arg)

Gene:

FRG2C:FSHD region gene 2 family member C [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p12.3

Genomic location:

Preferred name:

NM_001124759.5(FRG2C):c.278A>G (p.Gln93Arg)

HGVS:

NC_000003.12:g.75665147A>G
NM_001124759.5:c.278A>GMANE SELECT
NP_001118231.1:p.Gln93Arg
NP_001118231.1:p.Gln93Arg
NC_000003.11:g.75714298A>G
NM_001124759.3:c.278A>G

Protein change:

Q93R

Links:

dbSNP: rs74714110

NCBI 1000 Genomes Browser:

rs74714110

Molecular consequence:

NM_001124759.5:c.278A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

744

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001438925	Pathology and Clinical Laboratory Medicine, King Fahad Medical City	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001438925

Pathology and Clinical Laboratory Medicine, King Fahad Medical City

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Arab	germline	no	744	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine, King Fahad Medical City, SCV001438925.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab	744	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		744	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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