rs6993453
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_125827.1(LOC102724710):n.396-3098A>G 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 0.279 in 151,586 control chromosomes in the GnomAD database, including 8,833 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_125827.1 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 |
---|---|---|---|---|---|---|---|
LOC102724710 | NR_125827.1 | n.396-3098A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000648652.1 | n.471-3098A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000523284.2 | n.478-3098A>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000653143.1 | n.482-3098A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.279 AC: 42198AN: 151472Hom.: 8808 Cov.: 31
GnomAD4 genome ? AF: 0.279 AC: 42274AN: 151586Hom.: 8833 Cov.: 31 AF XY: 0.279 AC XY: 20651AN XY: 74072
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at