chr13-45783942-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198849.3(SIAH3):āc.251A>Gā(p.His84Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000417 in 1,605,728 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_198849.3 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 |
---|---|---|---|---|---|---|---|
SIAH3 | NM_198849.3 | c.251A>G | p.His84Arg | missense_variant | 2/2 | ENST00000400405.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIAH3 | ENST00000400405.4 | c.251A>G | p.His84Arg | missense_variant | 2/2 | 1 | NM_198849.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000199 AC: 3AN: 150904Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000251 AC: 6AN: 238972Hom.: 0 AF XY: 0.0000386 AC XY: 5AN XY: 129380
GnomAD4 exome AF: 0.0000440 AC: 64AN: 1454824Hom.: 0 Cov.: 32 AF XY: 0.0000456 AC XY: 33AN XY: 723100
GnomAD4 genome AF: 0.0000199 AC: 3AN: 150904Hom.: 0 Cov.: 32 AF XY: 0.0000272 AC XY: 2AN XY: 73612
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at