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NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter) AND Ichthyosis vulgaris

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 11, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002248656.2

Allele description [Variation Report for NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter)]

NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter)

Genes:
FLG-AS1:FLG antisense RNA 1 [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.7249C>T (p.Gln2417Ter)
HGVS:
  • NC_000001.11:g.152307637G>A
  • NG_016190.1:g.22567C>T
  • NM_002016.2:c.7249C>TMANE SELECT
  • NP_002007.1:p.Gln2417Ter
  • NP_002007.1:p.Gln2417Ter
  • LRG_1028t1:c.7249C>T
  • LRG_1028:g.22567C>T
  • LRG_1028p1:p.Gln2417Ter
  • NC_000001.10:g.152280113G>A
  • NM_002016.1:c.7249C>T
Protein change:
Q2417*
Links:
dbSNP: rs528722713
NCBI 1000 Genomes Browser:
rs528722713
Molecular consequence:
  • NM_002016.2:c.7249C>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002516382Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)
Pathogenic
(May 4, 2022)
germlineclinical testing

Citation Link,

SCV004049887Genome-Nilou Lab
criteria provided, single submitter

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

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
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 Mendelics, SCV002516382.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Genome-Nilou Lab, SCV004049887.1

#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: Dec 24, 2023