X-119545508-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022101.4(STEEP1):c.243-4G>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000959 in 1,042,726 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. 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 Uncertain significance (★).
Frequency
Consequence
NM_022101.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
STEEP1 | NM_022101.4 | c.243-4G>A | splice_region_variant, intron_variant | Intron 2 of 6 | ENST00000644802.2 | NP_071384.1 | ||
STEEP1 | NM_001170570.2 | c.243-1017G>A | intron_variant | Intron 2 of 5 | NP_001164041.1 | |||
STEEP1 | NM_001170569.1 | c.96-4G>A | splice_region_variant, intron_variant | Intron 2 of 6 | NP_001164040.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome AF: 9.59e-7 AC: 1AN: 1042726Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 316598
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not provided Uncertain:1
STEEP1: PM2, BP4 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.