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NM_002016.2(FLG):c.6040G>C (p.Ala2014Pro) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 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:
RCV004386830.1

Allele description [Variation Report for NM_002016.2(FLG):c.6040G>C (p.Ala2014Pro)]

NM_002016.2(FLG):c.6040G>C (p.Ala2014Pro)

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.6040G>C (p.Ala2014Pro)
HGVS:
  • NC_000001.11:g.152308846C>G
  • NG_016190.1:g.21358G>C
  • NM_002016.2:c.6040G>CMANE SELECT
  • NP_002007.1:p.Ala2014Pro
  • NP_002007.1:p.Ala2014Pro
  • LRG_1028t1:c.6040G>C
  • LRG_1028:g.21358G>C
  • LRG_1028p1:p.Ala2014Pro
  • NC_000001.10:g.152281322C>G
  • NM_002016.1:c.6040G>C
Protein change:
A2014P
Molecular consequence:
  • NM_002016.2:c.6040G>C - 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
SCV004871513Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 29, 2024) 		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, SCV004871513.1

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

Description

The c.6040G>C (p.A2014P) alteration is located in exon 3 (coding exon 2) of the FLG gene. This alteration results from a G to C substitution at nucleotide position 6040, causing the alanine (A) at amino acid position 2014 to be replaced by a proline (P). 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 7, 2024