GeneBe

rs3835070

Positions:

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_000208.4(INSR):​c.653-15_653-4del variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 0)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control

Consequence

INSR
NM_000208.4 splice_region, splice_polypyrimidine_tract, intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.04
Variant links:
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 Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
INSRNM_000208.4 linkuse as main transcriptc.653-15_653-4del splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant ENST00000302850.10
INSRNM_001079817.3 linkuse as main transcriptc.653-15_653-4del splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant
INSRXM_011527988.3 linkuse as main transcriptc.653-15_653-4del splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant
INSRXM_011527989.4 linkuse as main transcriptc.653-15_653-4del splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
INSRENST00000302850.10 linkuse as main transcriptc.653-15_653-4del splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant 1 NM_000208.4 A2P06213-1
INSRENST00000341500.9 linkuse as main transcriptc.653-15_653-4del splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant 1 P3P06213-2
INSRENST00000598216.1 linkuse as main transcriptn.628-15_628-4del splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant 1

Frequencies

GnomAD3 genomes
Cov.:
0
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
0.00
AC:
0
AN:
1233948
Hom.:
0
AF XY:
0.00
AC XY:
0
AN XY:
617966
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
0
Bravo
AF:
0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs3835070; hg19: chr19-7184651; API