6-111591396-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_147686.4(TRAF3IP2):c.691C>G(p.Leu231Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000245 in 1,549,478 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_147686.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152188Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000303 AC: 6AN: 197744Hom.: 0 AF XY: 0.0000190 AC XY: 2AN XY: 105292
GnomAD4 exome AF: 0.0000222 AC: 31AN: 1397172Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 18AN XY: 689158
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152306Hom.: 1 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.691C>G (p.L231V) alteration is located in exon 2 (coding exon 1) of the TRAF3IP2 gene. This alteration results from a C to G substitution at nucleotide position 691, causing the leucine (L) at amino acid position 231 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Candidiasis, familial, 8 Uncertain:1
This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 231 of the TRAF3IP2 protein (p.Leu231Val). This variant is present in population databases (rs149860754, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with TRAF3IP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 957805). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TRAF3IP2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at