8-144513142-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004260.4(RECQL4):c.2464-4G>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000712 in 1,405,316 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004260.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RECQL4 | ENST00000617875.6 | c.2464-4G>C | splice_region_variant, intron_variant | 1 | NM_004260.4 | ENSP00000482313.2 | ||||
RECQL4 | ENST00000621189.4 | c.1393-4G>C | splice_region_variant, intron_variant | 1 | ENSP00000483145.1 | |||||
RECQL4 | ENST00000534626.6 | c.634-4G>C | splice_region_variant, intron_variant | 5 | ENSP00000477457.1 | |||||
ENSG00000265393 | ENST00000580385.1 | n.271+305C>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000502 AC: 1AN: 199216Hom.: 0 AF XY: 0.00000927 AC XY: 1AN XY: 107894
GnomAD4 exome AF: 7.12e-7 AC: 1AN: 1405316Hom.: 0 Cov.: 66 AF XY: 0.00000145 AC XY: 1AN XY: 691966
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at