ENST00000367342.8:c.105G>T
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The ENST00000367342.8(INAVA):c.105G>T(p.Arg35Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000255 in 1,410,622 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R35R) has been classified as Benign.
Frequency
Consequence
ENST00000367342.8 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
INAVA | NM_018265.4 | c.63G>T | p.Arg21Arg | synonymous_variant | Exon 1 of 10 | NP_060735.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INAVA | ENST00000367342.8 | c.105G>T | p.Arg35Arg | synonymous_variant | Exon 1 of 10 | 1 | ENSP00000356311.5 | |||
INAVA | ENST00000451872.6 | c.-10+201G>T | intron_variant | Intron 1 of 4 | 3 | ENSP00000397255.2 | ||||
INAVA | ENST00000532631.5 | c.-95+201G>T | intron_variant | Intron 1 of 2 | 3 | ENSP00000431682.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD2 exomes AF: 0.0000317 AC: 6AN: 189228 AF XY: 0.0000391 show subpopulations
GnomAD4 exome AF: 0.0000255 AC: 36AN: 1410622Hom.: 0 Cov.: 31 AF XY: 0.0000315 AC XY: 22AN XY: 699304 show subpopulations
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at