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NM_002016.2(FLG):c.9956C>T (p.Pro3319Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 20, 2022
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:
RCV002951677.2

Allele description [Variation Report for NM_002016.2(FLG):c.9956C>T (p.Pro3319Leu)]

NM_002016.2(FLG):c.9956C>T (p.Pro3319Leu)

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.9956C>T (p.Pro3319Leu)
HGVS:
  • NC_000001.11:g.152304930G>A
  • NG_016190.1:g.25274C>T
  • NM_002016.2:c.9956C>TMANE SELECT
  • NP_002007.1:p.Pro3319Leu
  • NP_002007.1:p.Pro3319Leu
  • LRG_1028t1:c.9956C>T
  • LRG_1028:g.25274C>T
  • LRG_1028p1:p.Pro3319Leu
  • NC_000001.10:g.152277406G>A
  • NM_002016.1:c.9956C>T
Protein change:
P3319L
Molecular consequence:
  • NM_002016.2:c.9956C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003684165Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 20, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003684165.2

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

Description

The c.9956C>T (p.P3319L) alteration is located in exon 3 (coding exon 2) of the FLG gene. This alteration results from a C to T substitution at nucleotide position 9956, causing the proline (P) at amino acid position 3319 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024