rs387906540
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The NM_000208.4(INSR):c.1114C>T(p.Arg372Ter) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,840 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_000208.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
INSR | NM_000208.4 | c.1114C>T | p.Arg372Ter | stop_gained | 4/22 | ENST00000302850.10 | |
INSR | NM_001079817.3 | c.1114C>T | p.Arg372Ter | stop_gained | 4/21 | ||
INSR | XM_011527988.3 | c.1114C>T | p.Arg372Ter | stop_gained | 4/22 | ||
INSR | XM_011527989.4 | c.1114C>T | p.Arg372Ter | stop_gained | 4/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
INSR | ENST00000302850.10 | c.1114C>T | p.Arg372Ter | stop_gained | 4/22 | 1 | NM_000208.4 | A2 | |
INSR | ENST00000341500.9 | c.1114C>T | p.Arg372Ter | stop_gained | 4/21 | 1 | P3 | ||
INSR | ENST00000598216.1 | n.1089C>T | non_coding_transcript_exon_variant | 4/10 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251364Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135884
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461840Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727218
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at