rs10875976
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_027499.1(BCDIN3D-AS1):n.355+3601G>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 0.414 in 152,028 control chromosomes in the GnomAD database, including 13,673 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_027499.1 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 |
---|---|---|---|---|---|---|---|
BCDIN3D-AS1 | NR_027499.1 | n.355+3601G>A | intron_variant, non_coding_transcript_variant | ||||
BCDIN3D-AS1 | NR_027500.1 | n.351+3601G>A | intron_variant, non_coding_transcript_variant | ||||
BCDIN3D-AS1 | NR_027501.1 | n.351+3601G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCDIN3D-AS1 | ENST00000548872.5 | n.356+3601G>A | intron_variant, non_coding_transcript_variant | 1 | |||||
BCDIN3D-AS1 | ENST00000549124.1 | n.171+3601G>A | intron_variant, non_coding_transcript_variant | 3 | |||||
BCDIN3D-AS1 | ENST00000670504.1 | n.215+3601G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.415 AC: 62986AN: 151908Hom.: 13669 Cov.: 32
GnomAD4 genome ? AF: 0.414 AC: 62992AN: 152028Hom.: 13673 Cov.: 32 AF XY: 0.411 AC XY: 30546AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at