chr11-2160825-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM1PM2PP3_ModeratePP5
The NM_000207.3(INS):āc.147C>Gā(p.Phe49Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,460,328 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar. Synonymous variant affecting the same amino acid position (i.e. F49F) has been classified as Uncertain significance.
Frequency
Consequence
NM_000207.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
INS | NM_000207.3 | c.147C>G | p.Phe49Leu | missense_variant | 2/3 | ENST00000381330.5 | |
INS-IGF2 | NR_003512.4 | n.206C>G | non_coding_transcript_exon_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
INS | ENST00000381330.5 | c.147C>G | p.Phe49Leu | missense_variant | 2/3 | 1 | NM_000207.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 35
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460328Hom.: 0 Cov.: 88 AF XY: 0.00 AC XY: 0AN XY: 726498
GnomAD4 genome Cov.: 35
ClinVar
Submissions by phenotype
Hyperproinsulinemia Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Apr 07, 1983 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at