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NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001090407.24

Allele description [Variation Report for NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter)]

NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter)

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.10255C>T (p.Arg3419Ter)
HGVS:
  • NC_000001.11:g.152304631G>A
  • NG_016190.1:g.25573C>T
  • NM_002016.2:c.10255C>TMANE SELECT
  • NP_002007.1:p.Arg3419Ter
  • LRG_1028t1:c.10255C>T
  • LRG_1028:g.25573C>T
  • NC_000001.10:g.152277107G>A
  • NM_002016.1:c.10255C>T
Protein change:
R3419*
Links:
dbSNP: rs143418984
NCBI 1000 Genomes Browser:
rs143418984
Molecular consequence:
  • NM_002016.2:c.10255C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001245943CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jul 1, 2023) 		germlineclinical testing

Citation Link,

SCV001784773GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jul 31, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001245943.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

FLG: PM3:Strong, PVS1:Strong, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV001784773.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported previously in a patient with atopic dermatitis (O'Regan et al., 2010); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 643 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 20621340, 22322004, 31365035)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024