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NM_006147.4(IRF6):c.1388C>T (p.Ala463Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 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:
RCV003165800.2

Allele description [Variation Report for NM_006147.4(IRF6):c.1388C>T (p.Ala463Val)]

NM_006147.4(IRF6):c.1388C>T (p.Ala463Val)

Gene:
IRF6:interferon regulatory factor 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_006147.4(IRF6):c.1388C>T (p.Ala463Val)
HGVS:
  • NC_000001.11:g.209788436G>A
  • NG_007081.2:g.22699C>T
  • NM_001206696.2:c.1103C>T
  • NM_006147.4:c.1388C>TMANE SELECT
  • NP_001193625.1:p.Ala368Val
  • NP_006138.1:p.Ala463Val
  • NC_000001.10:g.209961781G>A
  • NM_006147.3:c.1388C>T
Protein change:
A368V
Links:
dbSNP: rs886045883
NCBI 1000 Genomes Browser:
rs886045883
Molecular consequence:
  • NM_001206696.2:c.1103C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006147.4:c.1388C>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
SCV003904280Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 16, 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, SCV003904280.2

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

Description

The c.1388C>T (p.A463V) alteration is located in exon 9 (coding exon 7) of the IRF6 gene. This alteration results from a C to T substitution at nucleotide position 1388, causing the alanine (A) at amino acid position 463 to be replaced by a valine (V). 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