chr1-63774516-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_005012.4(ROR1):c.91+8G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000219 in 1,113,862 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_005012.4 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ROR1 | NM_005012.4 | c.91+8G>T | splice_region_variant, intron_variant | ENST00000371079.6 | |||
ROR1 | NM_001083592.2 | c.91+8G>T | splice_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROR1 | ENST00000371079.6 | c.91+8G>T | splice_region_variant, intron_variant | 1 | NM_005012.4 | P1 | |||
ROR1 | ENST00000371080.5 | c.91+8G>T | splice_region_variant, intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000740 AC: 11AN: 148620Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000241 AC: 233AN: 965242Hom.: 0 Cov.: 26 AF XY: 0.000229 AC XY: 105AN XY: 457776
GnomAD4 genome ? AF: 0.0000740 AC: 11AN: 148620Hom.: 0 Cov.: 32 AF XY: 0.0000829 AC XY: 6AN XY: 72356
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 27, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at