NM_001124759.5(FRG2C):c.334+93C>T 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:: RCV001261634.1

Allele description [Variation Report for NM_001124759.5(FRG2C):c.334+93C>T]

NM_001124759.5(FRG2C):c.334+93C>T

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.334+93C>T

HGVS:

NC_000003.12:g.75665296C>T
NM_001124759.5:c.334+93C>TMANE SELECT
NC_000003.11:g.75714447C>T
NM_001124759.3:c.334+93C>T

Links:

dbSNP: rs75613762

NCBI 1000 Genomes Browser:

rs75613762

Molecular consequence:

NM_001124759.5:c.334+93C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

917

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
SCV001438927	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

SCV001438927

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	917	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine, King Fahad Medical City, SCV001438927.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab	917	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		917	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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