NM_002016.2(FLG):c.6222G>C (p.Glu2074Asp) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 12, 2023
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:: RCV003281651.2

Allele description [Variation Report for NM_002016.2(FLG):c.6222G>C (p.Glu2074Asp)]

NM_002016.2(FLG):c.6222G>C (p.Glu2074Asp)

Genes:

CCDST:cervical cancer associated DHX9 suppressive transcript [Gene - HGNC]
FLG:filaggrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_002016.2(FLG):c.6222G>C (p.Glu2074Asp)

HGVS:

NC_000001.11:g.152308664C>G
NG_016190.1:g.21540G>C
NM_002016.2:c.6222G>CMANE SELECT
NP_002007.1:p.Glu2074Asp
NP_002007.1:p.Glu2074Asp
LRG_1028t1:c.6222G>C
LRG_1028:g.21540G>C
LRG_1028p1:p.Glu2074Asp
NC_000001.10:g.152281140C>G
NM_002016.1:c.6222G>C

Protein change:

E2074D

Molecular consequence:

NM_002016.2:c.6222G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Model organism or animal sample from Mus musculus
Model organism or animal sample from Mus musculus

biosample

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
SCV003969733	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003969733

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 12, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV003969733.2

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

Description

The c.6222G>C (p.E2074D) alteration is located in exon 3 (coding exon 2) of the FLG gene. This alteration results from a G to C substitution at nucleotide position 6222, causing the glutamic acid (E) at amino acid position 2074 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

ClinVar

Relating variation to medicine