NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 5, 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:: RCV000598981.6

Allele description [Variation Report for NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)]

NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)

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.6239C>A (p.Ser2080Ter)

HGVS:

NC_000001.11:g.152308647G>T
NG_016190.1:g.21557C>A
NM_002016.2:c.6239C>AMANE SELECT
NP_002007.1:p.Ser2080Ter
NP_002007.1:p.Ser2080Ter
LRG_1028t1:c.6239C>A
LRG_1028:g.21557C>A
LRG_1028p1:p.Ser2080Ter
NC_000001.10:g.152281123G>T
NM_002016.1:c.6239C>A

Protein change:

S2080*

Links:

dbSNP: rs147145234

NCBI 1000 Genomes Browser:

rs147145234

Molecular consequence:

NM_002016.2:c.6239C>A - 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
SCV000710048	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 5, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710048

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 5, 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, SCV000710048.7

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

Description

Identified in published literature in the heterozygous state in an individual with ichthyosis who also harbored two variants in a different gene associated with autosomal recessive inheritance (PMID: 25356970); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 1982 amino acids are lost, 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: 34758253, 31365035, 31589614, 34510712, 25356970)

#	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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