rs190552
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_131205.1(LOC105372441):n.230+3644T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.245 in 152,094 control chromosomes in the GnomAD database, including 4,815 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
Consequence
NR_131205.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105372441 | NR_131205.1 | n.230+3644T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105372441 | NR_131203.1 | n.213+3644T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000598079.1 | n.213+3644T>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
KLK15 | ENST00000326856.8 | c.-32+2178A>G | intron_variant | 5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.245 AC: 37200AN: 151976Hom.: 4814 Cov.: 31
GnomAD4 genome ? AF: 0.245 AC: 37216AN: 152094Hom.: 4815 Cov.: 31 AF XY: 0.245 AC XY: 18183AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at