1-112723977-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000369630.7(TAFA3):āc.298G>Cā(p.Asp100His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000353 in 1,613,722 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000369630.7 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAFA3 | NM_182759.3 | c.266-36G>C | intron_variant | ENST00000361886.4 | |||
TAFA3 | NM_001004440.2 | c.298G>C | p.Asp100His | missense_variant | 5/6 | ||
TAFA3 | NR_169586.1 | n.721G>C | splice_region_variant, non_coding_transcript_exon_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAFA3 | ENST00000369630.7 | c.298G>C | p.Asp100His | missense_variant | 4/5 | 1 | |||
TAFA3 | ENST00000361886.4 | c.266-36G>C | intron_variant | 1 | NM_182759.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152194Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251146Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135770
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461528Hom.: 0 Cov.: 31 AF XY: 0.0000289 AC XY: 21AN XY: 727070
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152194Hom.: 0 Cov.: 31 AF XY: 0.0000673 AC XY: 5AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at