rs6971091
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001282788.3(GARIN1B):c.724G>A(p.Glu242Lys) variant causes a missense change. The variant allele was found at a frequency of 0.218 in 1,611,952 control chromosomes in the GnomAD database, including 40,350 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001282788.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GARIN1B | NM_001282788.3 | c.724G>A | p.Glu242Lys | missense_variant | 4/7 | ENST00000621392.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GARIN1B | ENST00000621392.5 | c.724G>A | p.Glu242Lys | missense_variant | 4/7 | 5 | NM_001282788.3 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.181 AC: 27537AN: 151920Hom.: 2822 Cov.: 31
GnomAD3 exomes AF: 0.202 AC: 50665AN: 251332Hom.: 5747 AF XY: 0.210 AC XY: 28544AN XY: 135826
GnomAD4 exome AF: 0.222 AC: 323988AN: 1459914Hom.: 37527 Cov.: 32 AF XY: 0.225 AC XY: 163056AN XY: 726268
GnomAD4 genome ? AF: 0.181 AC: 27542AN: 152038Hom.: 2823 Cov.: 31 AF XY: 0.183 AC XY: 13587AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at