Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PM2_SupportingBP4_Strong
The NM_000207.3(INS):c.-17-6T>C variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
NM_000207.3 splice_region, splice_polypyrimidine_tract, intron
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Verdict is Likely_benign. Variant got -3 ACMG points.
|splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant
|splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant
GnomAD3 genomesCov.: 35
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at