3-68752952-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182522.5(TAFA4):c.197G>A(p.Arg66His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000737 in 1,614,048 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R66L) has been classified as Uncertain significance.
Frequency
Consequence
NM_182522.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAFA4 | NM_182522.5 | c.197G>A | p.Arg66His | missense_variant | Exon 4 of 6 | ENST00000295569.12 | NP_872328.1 | |
TAFA4 | NM_001005527.3 | c.197G>A | p.Arg66His | missense_variant | Exon 4 of 6 | NP_001005527.1 | ||
TAFA4 | XM_011533371.2 | c.197G>A | p.Arg66His | missense_variant | Exon 4 of 6 | XP_011531673.1 | ||
TAFA4 | XM_011533372.2 | c.197G>A | p.Arg66His | missense_variant | Exon 4 of 6 | XP_011531674.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAFA4 | ENST00000295569.12 | c.197G>A | p.Arg66His | missense_variant | Exon 4 of 6 | 1 | NM_182522.5 | ENSP00000295569.7 | ||
TAFA4 | ENST00000495737.1 | c.197G>A | p.Arg66His | missense_variant | Exon 4 of 4 | 4 | ENSP00000419439.1 | |||
TAFA4 | ENST00000634242.1 | c.*24G>A | downstream_gene_variant | 5 | ENSP00000489092.1 |
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 152074Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000956 AC: 24AN: 251156Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135730
GnomAD4 exome AF: 0.0000705 AC: 103AN: 1461856Hom.: 0 Cov.: 31 AF XY: 0.0000894 AC XY: 65AN XY: 727230
GnomAD4 genome AF: 0.000105 AC: 16AN: 152192Hom.: 1 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74398
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.197G>A (p.R66H) alteration is located in exon 4 (coding exon 3) of the FAM19A4 gene. This alteration results from a G to A substitution at nucleotide position 197, causing the arginine (R) at amino acid position 66 to be replaced by a histidine (H). 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