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NM_002016.2(FLG):c.3448C>T (p.Arg1150Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 24, 2024
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:
RCV003152188.3

Allele description [Variation Report for NM_002016.2(FLG):c.3448C>T (p.Arg1150Ter)]

NM_002016.2(FLG):c.3448C>T (p.Arg1150Ter)

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.3448C>T (p.Arg1150Ter)
HGVS:
  • NC_000001.11:g.152311438G>A
  • NG_016190.1:g.18766C>T
  • NM_002016.2:c.3448C>TMANE SELECT
  • NP_002007.1:p.Arg1150Ter
  • NP_002007.1:p.Arg1150Ter
  • LRG_1028t1:c.3448C>T
  • LRG_1028:g.18766C>T
  • LRG_1028p1:p.Arg1150Ter
  • NC_000001.10:g.152283914G>A
  • NM_002016.1:c.3448C>T
Protein change:
R1150*
Molecular consequence:
  • NM_002016.2:c.3448C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003840644GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 24, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV003840644.3

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

Description

Identified in individuals from the Pediatric Eczema Elective Registry with mild to moderate atopic dermatitis (PMID: 31365035); Nonsense variant predicted to result in protein truncation, as the last 2912 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 16444271, 31365035)

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

Last Updated: Oct 8, 2024