rs10588631
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000511291.1(ENSG00000251216):n.146-29287G>T 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 0.413 in 132,264 control chromosomes in the GnomAD database, including 10,269 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
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 |
---|---|---|---|---|---|---|---|
LOC105377544 | XR_939482.3 | n.291+1228C>A | intron_variant, non_coding_transcript_variant | ||||
LOC105377543 | XR_001741463.1 | n.270-19914G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105377543 | XR_939480.2 | n.270-19914G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105377544 | XR_939483.3 | n.223+1228C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000511291.1 | n.146-29287G>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
LINC02269 | ENST00000656853.1 | n.641+1228C>A | intron_variant, non_coding_transcript_variant | ||||||
ENST00000662648.1 | n.423-19914G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.413 AC: 54670AN: 132214Hom.: 10271 Cov.: 21
GnomAD4 genome AF: 0.413 AC: 54683AN: 132264Hom.: 10269 Cov.: 21 AF XY: 0.410 AC XY: 26377AN XY: 64276
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at