rs7248939
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000302850.10(INSR):c.101-531C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.352 in 984,182 control chromosomes in the GnomAD database, including 61,881 homozygotes. 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
Genomes: 𝑓 0.37 ( 10586 hom., cov: 30)
Exomes 𝑓: 0.35 ( 51295 hom. )
Consequence
INSR
ENST00000302850.10 intron
ENST00000302850.10 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.05
Genes affected
INSR (HGNC:6091): (insulin receptor) This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.588 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
INSR | NM_000208.4 | c.101-531C>T | intron_variant | ENST00000302850.10 | NP_000199.2 | |||
INSR | NM_001079817.3 | c.101-531C>T | intron_variant | NP_001073285.1 | ||||
INSR | XM_011527988.3 | c.101-531C>T | intron_variant | XP_011526290.2 | ||||
INSR | XM_011527989.4 | c.101-531C>T | intron_variant | XP_011526291.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INSR | ENST00000302850.10 | c.101-531C>T | intron_variant | 1 | NM_000208.4 | ENSP00000303830 | A2 | |||
INSR | ENST00000341500.9 | c.101-531C>T | intron_variant | 1 | ENSP00000342838 | P3 | ||||
INSR | ENST00000598216.1 | n.76-531C>T | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.369 AC: 55921AN: 151616Hom.: 10563 Cov.: 30
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GnomAD4 exome AF: 0.349 AC: 290608AN: 832448Hom.: 51295 Cov.: 29 AF XY: 0.348 AC XY: 133756AN XY: 384424
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GnomAD4 genome AF: 0.369 AC: 55978AN: 151734Hom.: 10586 Cov.: 30 AF XY: 0.370 AC XY: 27406AN XY: 74130
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at