6-160073377-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000356956.6(IGF2R):āc.4855A>Gā(p.Arg1619Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.882 in 1,614,202 control chromosomes in the GnomAD database, including 629,117 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. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000356956.6 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IGF2R | NM_000876.4 | c.4855A>G | p.Arg1619Gly | missense_variant | 34/48 | ENST00000356956.6 | NP_000867.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IGF2R | ENST00000356956.6 | c.4855A>G | p.Arg1619Gly | missense_variant | 34/48 | 1 | NM_000876.4 | ENSP00000349437 | P1 |
Frequencies
GnomAD3 genomes AF: 0.912 AC: 138820AN: 152232Hom.: 63442 Cov.: 35
GnomAD3 exomes AF: 0.899 AC: 225927AN: 251418Hom.: 101765 AF XY: 0.896 AC XY: 121751AN XY: 135896
GnomAD4 exome AF: 0.879 AC: 1285017AN: 1461852Hom.: 565611 Cov.: 62 AF XY: 0.880 AC XY: 640053AN XY: 727218
GnomAD4 genome AF: 0.912 AC: 138943AN: 152350Hom.: 63506 Cov.: 35 AF XY: 0.912 AC XY: 67937AN XY: 74494
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at