rs45563035
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_020746.5(MAVS):āc.440C>Gā(p.Thr147Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,614,064 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_020746.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAVS | NM_020746.5 | c.440C>G | p.Thr147Ser | missense_variant | 4/7 | ENST00000428216.4 | |
MAVS | NM_001206491.2 | c.17C>G | p.Thr6Ser | missense_variant | 3/6 | ||
MAVS | NM_001385663.1 | c.17C>G | p.Thr6Ser | missense_variant | 5/8 | ||
MAVS | NR_037921.2 | n.430-775C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAVS | ENST00000428216.4 | c.440C>G | p.Thr147Ser | missense_variant | 4/7 | 1 | NM_020746.5 | P1 | |
MAVS | ENST00000416600.6 | c.17C>G | p.Thr6Ser | missense_variant | 3/6 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251088Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135744
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461788Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727188
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152276Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74444
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at