chr11-2160093-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_000207.3(INS):c.188-96G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000428 in 1,348,130 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000207.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000223 AC: 34AN: 152154Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.000454 AC: 543AN: 1195858Hom.: 0 AF XY: 0.000446 AC XY: 267AN XY: 598270
GnomAD4 genome AF: 0.000223 AC: 34AN: 152272Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
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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 rs565314634, yet. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at