rs2739442
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_131205.1(LOC105372441):n.230+4624G>A 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 0.48 in 152,078 control chromosomes in the GnomAD database, including 18,183 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+4624G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105372441 | NR_131203.1 | n.213+4624G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000598079.1 | n.213+4624G>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
KLK15 | ENST00000326856.8 | c.-32+1198C>T | intron_variant | 5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.480 AC: 72947AN: 151960Hom.: 18149 Cov.: 33
GnomAD4 genome ? AF: 0.480 AC: 73018AN: 152078Hom.: 18183 Cov.: 33 AF XY: 0.482 AC XY: 35805AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at