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NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter) AND Ichthyosis vulgaris

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV003338670.1

Allele description [Variation Report for NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter)]

NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter)

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.4420C>T (p.Arg1474Ter)
HGVS:
  • NC_000001.11:g.152310466G>A
  • NG_016190.1:g.19738C>T
  • NM_002016.2:c.4420C>TMANE SELECT
  • NP_002007.1:p.Arg1474Ter
  • NP_002007.1:p.Arg1474Ter
  • LRG_1028t1:c.4420C>T
  • LRG_1028:g.19738C>T
  • LRG_1028p1:p.Arg1474Ter
  • NC_000001.10:g.152282942G>A
  • NM_002016.1:c.4420C>T
Protein change:
R1474*
Links:
dbSNP: rs146686141
NCBI 1000 Genomes Browser:
rs146686141
Molecular consequence:
  • NM_002016.2:c.4420C>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004050249Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 11, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV004050249.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024