rs3744921
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001242409.2(GAREM1):āc.872A>Gā(p.Lys291Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0101 in 1,614,028 control chromosomes in the GnomAD database, including 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_001242409.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GAREM1 | NM_001242409.2 | c.872A>G | p.Lys291Arg | missense_variant | 4/6 | ENST00000269209.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAREM1 | ENST00000269209.7 | c.872A>G | p.Lys291Arg | missense_variant | 4/6 | 1 | NM_001242409.2 | P4 | |
ENST00000579580.1 | n.289T>C | non_coding_transcript_exon_variant | 1/2 | 3 | |||||
GAREM1 | ENST00000399218.8 | c.872A>G | p.Lys291Arg | missense_variant | 4/6 | 2 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0103 AC: 1562AN: 152034Hom.: 26 Cov.: 32
GnomAD3 exomes AF: 0.0183 AC: 4604AN: 251482Hom.: 103 AF XY: 0.0170 AC XY: 2305AN XY: 135916
GnomAD4 exome AF: 0.0101 AC: 14695AN: 1461876Hom.: 323 Cov.: 32 AF XY: 0.0102 AC XY: 7411AN XY: 727238
GnomAD4 genome AF: 0.0103 AC: 1570AN: 152152Hom.: 27 Cov.: 32 AF XY: 0.0104 AC XY: 776AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at