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NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 27, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000255117.14

Allele description [Variation Report for NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)]

NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)

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.2476C>T (p.Arg826Ter)
HGVS:
  • NC_000001.11:g.152312410G>A
  • NG_016190.1:g.17794C>T
  • NM_002016.2:c.2476C>TMANE SELECT
  • NP_002007.1:p.Arg826Ter
  • NP_002007.1:p.Arg826Ter
  • LRG_1028t1:c.2476C>T
  • LRG_1028:g.17794C>T
  • LRG_1028p1:p.Arg826Ter
  • NC_000001.10:g.152284886G>A
  • NM_002016.1:c.2476C>T
  • p.R826*
Protein change:
R826*
Links:
dbSNP: rs115746363
NCBI 1000 Genomes Browser:
rs115746363
Molecular consequence:
  • NM_002016.2:c.2476C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV000321674GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 27, 2022) 		germlineclinical testing

Citation Link,

SCV000854944Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Jul 31, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000321674.10

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

Description

Nonsense variant in the N-terminus predicted to result in protein truncation or nonsense-mediated mRNA decay,and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); This variant is associated with the following publications: (PMID: 21039602, 29791750, 22407025, 22344438, 28143684, 28407221, 29428354, 31365035, 24920311)

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

From Eurofins Ntd Llc (ga), SCV000854944.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 16, 2024