rs12570371
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_945963.2(LOC105378306):n.387-2501A>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 0.705 in 151,776 control chromosomes in the GnomAD database, including 38,265 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
XR_945963.2 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105378306 | XR_945963.2 | n.387-2501A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105378307 | XR_945965.3 | n.370-3363T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.705 AC: 106915AN: 151658Hom.: 38214 Cov.: 32
GnomAD4 genome ? AF: 0.705 AC: 107028AN: 151776Hom.: 38265 Cov.: 32 AF XY: 0.708 AC XY: 52517AN XY: 74170
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at