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NM_002016.2(FLG):c.6208C>T (p.Gln2070Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 4, 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:
RCV000760676.4

Allele description [Variation Report for NM_002016.2(FLG):c.6208C>T (p.Gln2070Ter)]

NM_002016.2(FLG):c.6208C>T (p.Gln2070Ter)

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.6208C>T (p.Gln2070Ter)
HGVS:
  • NC_000001.11:g.152308678G>A
  • NG_016190.1:g.21526C>T
  • NM_002016.2:c.6208C>TMANE SELECT
  • NP_002007.1:p.Gln2070Ter
  • NP_002007.1:p.Gln2070Ter
  • LRG_1028t1:c.6208C>T
  • LRG_1028:g.21526C>T
  • LRG_1028p1:p.Gln2070Ter
  • NC_000001.10:g.152281154G>A
  • NM_002016.1:c.6208C>T
Protein change:
Q2070*
Links:
dbSNP: rs1423603720
NCBI 1000 Genomes Browser:
rs1423603720
Molecular consequence:
  • NM_002016.2:c.6208C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000890568GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 4, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000890568.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 1992 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024