rs564021
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_172505.1(LOC121725015):n.361-42359G>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 0.766 in 152,178 control chromosomes in the GnomAD database, including 45,294 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_172505.1 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 |
---|---|---|---|---|---|---|---|
LOC121725015 | NR_172505.1 | n.361-42359G>A | intron_variant, non_coding_transcript_variant | ||||
LOC121725015 | NR_172504.1 | n.361-42365G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000659442.1 | n.342+46558G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000664630.1 | n.332-42365G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000659662.1 | n.212-42359G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.766 AC: 116479AN: 152060Hom.: 45252 Cov.: 32
GnomAD4 genome AF: 0.766 AC: 116582AN: 152178Hom.: 45294 Cov.: 32 AF XY: 0.767 AC XY: 57076AN XY: 74382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at