chr20-3864697-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_020746.5(MAVS):āc.1067C>Gā(p.Ala356Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,864 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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.1067C>G | p.Ala356Gly | missense_variant | 6/7 | ENST00000428216.4 | |
MAVS | NM_001206491.2 | c.644C>G | p.Ala215Gly | missense_variant | 5/6 | ||
MAVS | NM_001385663.1 | c.644C>G | p.Ala215Gly | missense_variant | 7/8 | ||
MAVS | NR_037921.2 | n.1031C>G | non_coding_transcript_exon_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAVS | ENST00000428216.4 | c.1067C>G | p.Ala356Gly | missense_variant | 6/7 | 1 | NM_020746.5 | P1 | |
MAVS | ENST00000416600.6 | c.644C>G | p.Ala215Gly | missense_variant | 5/6 | 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461864Hom.: 0 Cov.: 33 AF XY: 0.00000550 AC XY: 4AN XY: 727230
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 24, 2022 | The c.1067C>G (p.A356G) alteration is located in exon 6 (coding exon 5) of the MAVS gene. This alteration results from a C to G substitution at nucleotide position 1067, causing the alanine (A) at amino acid position 356 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.