6-160027292-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000876.4(IGF2R):c.754C>T(p.Leu252Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,148 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.
Frequency
Consequence
NM_000876.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IGF2R | ENST00000356956.6 | c.754C>T | p.Leu252Leu | synonymous_variant | Exon 6 of 48 | 1 | NM_000876.4 | ENSP00000349437.1 | ||
IGF2R | ENST00000676781.1 | n.754C>T | non_coding_transcript_exon_variant | Exon 6 of 49 | ENSP00000504419.1 | |||||
IGF2R | ENST00000677704.1 | n.754C>T | non_coding_transcript_exon_variant | Exon 6 of 49 | ENSP00000503314.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461148Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726812
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at