rs10770125
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000643349.2(ENSG00000284779):c.278T>C(p.Leu93Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.463 in 1,247,656 control chromosomes in the GnomAD database, including 137,657 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
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 |
---|---|---|---|---|---|---|---|
INS-IGF2 | NR_003512.4 | n.490T>C | non_coding_transcript_exon_variant | 4/7 | |||
IGF2-AS | NR_028043.2 | n.1186A>G | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000643349.2 | c.278T>C | p.Leu93Pro | missense_variant | 2/5 | P1 | ||||
IGF2-AS | ENST00000381361.4 | n.1181A>G | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.403 AC: 61133AN: 151726Hom.: 14036 Cov.: 31
GnomAD3 exomes AF: 0.491 AC: 11376AN: 23166Hom.: 2964 AF XY: 0.503 AC XY: 5182AN XY: 10296
GnomAD4 exome AF: 0.471 AC: 515905AN: 1095808Hom.: 123605 Cov.: 37 AF XY: 0.470 AC XY: 243404AN XY: 517460
GnomAD4 genome ? AF: 0.403 AC: 61163AN: 151848Hom.: 14052 Cov.: 31 AF XY: 0.409 AC XY: 30329AN XY: 74218
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at