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NM_001014342.3(FLG2):c.6835G>A (p.Ala2279Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 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:
RCV004389432.1

Allele description [Variation Report for NM_001014342.3(FLG2):c.6835G>A (p.Ala2279Thr)]

NM_001014342.3(FLG2):c.6835G>A (p.Ala2279Thr)

Genes:
CCDST:cervical cancer associated DHX9 suppressive transcript [Gene - HGNC]
FLG2:filaggrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_001014342.3(FLG2):c.6835G>A (p.Ala2279Thr)
HGVS:
  • NC_000001.11:g.152350951C>T
  • NM_001014342.3:c.6835G>AMANE SELECT
  • NP_001014364.1:p.Ala2279Thr
  • NC_000001.10:g.152323427C>T
  • NM_001014342.2:c.6835G>A
Protein change:
A2279T
Molecular consequence:
  • NM_001014342.3:c.6835G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004870515Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 17, 2023) 		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, SCV004870515.1

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

Description

The c.6835G>A (p.A2279T) alteration is located in exon 3 (coding exon 2) of the FLG2 gene. This alteration results from a G to A substitution at nucleotide position 6835, causing the alanine (A) at amino acid position 2279 to be replaced by a threonine (T). 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