rs3087400
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_016316.4(REV1):āc.3305T>Cā(p.Leu1102Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000512 in 1,614,232 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict 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_016316.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
REV1 | NM_016316.4 | c.3305T>C | p.Leu1102Pro | missense_variant | 20/23 | ENST00000258428.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
REV1 | ENST00000258428.8 | c.3305T>C | p.Leu1102Pro | missense_variant | 20/23 | 1 | NM_016316.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00288 AC: 438AN: 152230Hom.: 3 Cov.: 33
GnomAD3 exomes AF: 0.000732 AC: 184AN: 251306Hom.: 2 AF XY: 0.000523 AC XY: 71AN XY: 135826
GnomAD4 exome AF: 0.000264 AC: 386AN: 1461884Hom.: 3 Cov.: 32 AF XY: 0.000215 AC XY: 156AN XY: 727246
GnomAD4 genome ? AF: 0.00289 AC: 441AN: 152348Hom.: 3 Cov.: 33 AF XY: 0.00262 AC XY: 195AN XY: 74500
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at