19-7184592-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_000208.4(INSR):c.698T>C(p.Leu233Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,506 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L233R) has been classified as Uncertain significance.
Frequency
Consequence
NM_000208.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
INSR | NM_000208.4 | c.698T>C | p.Leu233Pro | missense_variant | 3/22 | ENST00000302850.10 | |
INSR | NM_001079817.3 | c.698T>C | p.Leu233Pro | missense_variant | 3/21 | ||
INSR | XM_011527988.3 | c.698T>C | p.Leu233Pro | missense_variant | 3/22 | ||
INSR | XM_011527989.4 | c.698T>C | p.Leu233Pro | missense_variant | 3/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
INSR | ENST00000302850.10 | c.698T>C | p.Leu233Pro | missense_variant | 3/22 | 1 | NM_000208.4 | A2 | |
INSR | ENST00000341500.9 | c.698T>C | p.Leu233Pro | missense_variant | 3/21 | 1 | P3 | ||
INSR | ENST00000598216.1 | n.673T>C | non_coding_transcript_exon_variant | 3/10 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461506Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727062
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at