rs5507
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000207.3(INS):c.188-16C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00117 in 1,571,286 control chromosomes in the GnomAD database, including 22 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000207.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00587 AC: 894AN: 152180Hom.: 12 Cov.: 33
GnomAD3 exomes AF: 0.00130 AC: 238AN: 183460Hom.: 1 AF XY: 0.000993 AC XY: 98AN XY: 98664
GnomAD4 exome AF: 0.000662 AC: 939AN: 1418988Hom.: 10 Cov.: 35 AF XY: 0.000596 AC XY: 419AN XY: 702736
GnomAD4 genome AF: 0.00587 AC: 894AN: 152298Hom.: 12 Cov.: 33 AF XY: 0.00572 AC XY: 426AN XY: 74480
ClinVar
Submissions by phenotype
not provided Benign:4
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not specified Benign:2
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Neonatal insulin-dependent diabetes mellitus Benign:1
Mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as this mutation can cause beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs5507, yet. -
Neonatal diabetes mellitus Benign:1
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Hyperproinsulinemia;C1852092:Type 1 diabetes mellitus 2;C3150617:Maturity-onset diabetes of the young type 10;C5394307:Diabetes mellitus, permanent neonatal 4 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at