chr2-151370027-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007115.4(TNFAIP6):āc.402G>Cā(p.Glu134Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000596 in 1,611,594 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_007115.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TNFAIP6 | NM_007115.4 | c.402G>C | p.Glu134Asp | missense_variant | 4/6 | ENST00000243347.5 | |
LOC101929319 | NR_110248.1 | n.306+2768C>G | intron_variant, non_coding_transcript_variant | ||||
TNFAIP6 | XM_047445635.1 | c.402G>C | p.Glu134Asp | missense_variant | 4/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNFAIP6 | ENST00000243347.5 | c.402G>C | p.Glu134Asp | missense_variant | 4/6 | 1 | NM_007115.4 | P1 | |
TNFAIP6 | ENST00000460812.1 | n.84G>C | non_coding_transcript_exon_variant | 2/3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.000329 AC: 50AN: 152096Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000839 AC: 21AN: 250186Hom.: 0 AF XY: 0.0000666 AC XY: 9AN XY: 135228
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1459380Hom.: 0 Cov.: 30 AF XY: 0.0000317 AC XY: 23AN XY: 725840
GnomAD4 genome AF: 0.000322 AC: 49AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74426
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 07, 2024 | The c.402G>C (p.E134D) alteration is located in exon 4 (coding exon 4) of the TNFAIP6 gene. This alteration results from a G to C substitution at nucleotide position 402, causing the glutamic acid (E) at amino acid position 134 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at