rs4474258
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001738160.3(LOC105378861):n.512-19902C>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 0.376 in 152,036 control chromosomes in the GnomAD database, including 10,805 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_001738160.3 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 |
---|---|---|---|---|---|---|---|
LOC105378861 | XR_001738160.3 | n.512-19902C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC44A3-AS1 | ENST00000634870.1 | n.3881G>A | non_coding_transcript_exon_variant | 6/6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.376 AC: 57167AN: 151912Hom.: 10805 Cov.: 32
GnomAD4 exome AF: 0.500 AC: 2AN: 4Hom.: 1 Cov.: 0 AF XY: 1.00 AC XY: 2AN XY: 2
GnomAD4 genome AF: 0.376 AC: 57192AN: 152032Hom.: 10804 Cov.: 32 AF XY: 0.380 AC XY: 28225AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at