rs10504862
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000665922.1(ENSG00000253553):n.194-7014A>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 0.371 in 151,928 control chromosomes in the GnomAD database, including 11,820 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
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 |
---|---|---|---|---|---|---|---|
LOC105375630 | XR_001745653.3 | n.225-7014A>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375629 | XR_928383.4 | n.478+10851T>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000665922.1 | n.194-7014A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.371 AC: 56299AN: 151810Hom.: 11772 Cov.: 32
GnomAD4 genome AF: 0.371 AC: 56402AN: 151928Hom.: 11820 Cov.: 32 AF XY: 0.372 AC XY: 27647AN XY: 74234
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at