NM_002016.2(FLG):c.5368C>T (p.Gln1790Ter) AND Ichthyosis vulgaris

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 26, 2018
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:: RCV001333999.1

Allele description [Variation Report for NM_002016.2(FLG):c.5368C>T (p.Gln1790Ter)]

NM_002016.2(FLG):c.5368C>T (p.Gln1790Ter)

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.5368C>T (p.Gln1790Ter)

HGVS:

NC_000001.11:g.152309518G>A
NG_016190.1:g.20686C>T
NM_002016.2:c.5368C>TMANE SELECT
NP_002007.1:p.Gln1790Ter
LRG_1028t1:c.5368C>T
LRG_1028:g.20686C>T
NC_000001.10:g.152281994G>A
NM_002016.1:c.5368C>T

Protein change:

Q1790*

Links:

dbSNP: rs200622741

NCBI 1000 Genomes Browser:

rs200622741

Molecular consequence:

NM_002016.2:c.5368C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Ichthyosis vulgaris
Synonyms:: Ichthyosis simplex; Dominant ichthyosis vulgaris
Identifiers:: MONDO: MONDO:0024304; MedGen: C0079584; OMIM: 146700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001526728	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 26, 2018)	maternal	clinical testing	PubMed (4) [See all records that cite these PMIDs] 21039602, 24629053, 27519469, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001526728

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 26, 2018)

maternal

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis.

Zhang H, Guo Y, Wang W, Shi M, Chen X, Yao Z.

Allergy. 2011 Mar;66(3):420-7. doi: 10.1111/j.1398-9995.2010.02493.x. Epub 2010 Oct 8.

PubMed [citation]

PMID:: 21039602

Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis.

Mizuno O, Nomura T, Ohguchi Y, Suzuki S, Nomura Y, Hamade Y, Hoshina D, Sandilands A, Akiyama M, McLean WH, Abe R, Shimizu H.

J Eur Acad Dermatol Venereol. 2015 Apr;29(4):805-8. doi: 10.1111/jdv.12441. Epub 2014 Mar 14.

PubMed [citation]

PMID:: 24629053

See all PubMed Citations (4)

Details of each submission

From Baylor Genetics, SCV001526728.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with ichthyosis vulgaris [PMID 21039602, 24629053, 27519469]

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

Last Updated: Oct 8, 2024

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