NM_002016.2(FLG):c.9025C>T (p.Arg3009Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 19, 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:: RCV001575428.8

Allele description [Variation Report for NM_002016.2(FLG):c.9025C>T (p.Arg3009Ter)]

NM_002016.2(FLG):c.9025C>T (p.Arg3009Ter)

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.9025C>T (p.Arg3009Ter)

HGVS:

NC_000001.11:g.152305861G>A
NG_016190.1:g.24343C>T
NM_002016.2:c.9025C>TMANE SELECT
NP_002007.1:p.Arg3009Ter
LRG_1028t1:c.9025C>T
LRG_1028:g.24343C>T
NC_000001.10:g.152278337G>A
NM_002016.1:c.9025C>T

Protein change:

R3009*

Links:

dbSNP: rs751209525

NCBI 1000 Genomes Browser:

rs751209525

Molecular consequence:

NM_002016.2:c.9025C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001802421	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 19, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001802421

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 19, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001802421.5

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

Description

Identified in a patient with ripple pattern lichen amyloidosis, atopic dermatitis, and allergies in the published literature (PMID: 27530091); Nonsense variant predicted to result in protein truncation, as the last 1053 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: 37200867, 27530091)

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

Last Updated: Oct 8, 2024

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