rs10503579
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007061175.1(LOC101929028):n.937-5409T>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 0.0457 in 151,234 control chromosomes in the GnomAD database, including 408 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_007061175.1 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 |
---|---|---|---|---|---|---|---|
LOC101929028 | XR_007061175.1 | n.937-5409T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MSR1 | ENST00000518026.5 | c.-180+8454T>A | intron_variant | 4 | |||||
MSR1 | ENST00000518343.5 | n.94-5409T>A | intron_variant, non_coding_transcript_variant | 4 | |||||
MSR1 | ENST00000521876.5 | n.70+8454T>A | intron_variant, non_coding_transcript_variant | 5 | |||||
MSR1 | ENST00000522130.1 | n.216+8454T>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0457 AC: 6903AN: 151118Hom.: 409 Cov.: 33
GnomAD4 genome ? AF: 0.0457 AC: 6905AN: 151234Hom.: 408 Cov.: 33 AF XY: 0.0494 AC XY: 3654AN XY: 73968
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at