NM_004477.3(FRG1):c.77G>A (p.Ser26Asn) AND EBV-positive nodal T- and NK-cell lymphoma

Germline classification:: Likely benign (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004560280.1

Allele description [Variation Report for NM_004477.3(FRG1):c.77G>A (p.Ser26Asn)]

NM_004477.3(FRG1):c.77G>A (p.Ser26Asn)

Gene:

FRG1:FSHD region gene 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.2

Genomic location:

Preferred name:

NM_004477.3(FRG1):c.77G>A (p.Ser26Asn)

HGVS:

NC_000004.12:g.189943216G>A
NG_008142.1:g.7398G>A
NM_004477.3:c.77G>AMANE SELECT
NP_004468.1:p.Ser26Asn
NC_000004.11:g.190864371G>A

Protein change:

S26N

Molecular consequence:

NM_004477.3:c.77G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: EBV-positive nodal T- and NK-cell lymphoma
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004217950	Department of Clinical Pathology, School of Medicine, Fujita Health University	no assertion criteria provided	Likely benign	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004217950

Department of Clinical Pathology, School of Medicine, Fujita Health University

no assertion criteria provided

Likely benign

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Department of Clinical Pathology, School of Medicine, Fujita Health University, SCV004217950.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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