chr6-99281296-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_032511.4(FAXC):c.1098G>T(p.Arg366Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000124 in 1,614,068 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032511.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAXC | ENST00000389677.6 | c.1098G>T | p.Arg366Ser | missense_variant | Exon 6 of 6 | 1 | NM_032511.4 | ENSP00000374328.4 | ||
FAXC | ENST00000538471.1 | c.258G>T | p.Arg86Ser | missense_variant | Exon 3 of 3 | 1 | ENSP00000445267.1 | |||
FAXC | ENST00000461803.1 | n.265G>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251238Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135772
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461880Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727238
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152188Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1098G>T (p.R366S) alteration is located in exon 6 (coding exon 6) of the FAXC gene. This alteration results from a G to T substitution at nucleotide position 1098, causing the arginine (R) at amino acid position 366 to be replaced by a serine (S). 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