rs186739072
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_004260.4(RECQL4):c.2755G>T(p.Ala919Ser) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.000000688 in 1,452,704 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/3 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 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RECQL4 | NM_004260.4 | c.2755G>T | p.Ala919Ser | missense_variant, splice_region_variant | 15/21 | ENST00000617875.6 | NP_004251.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RECQL4 | ENST00000617875.6 | c.2755G>T | p.Ala919Ser | missense_variant, splice_region_variant | 15/21 | 1 | NM_004260.4 | ENSP00000482313.2 | ||
RECQL4 | ENST00000621189.4 | c.1684G>T | p.Ala562Ser | missense_variant, splice_region_variant | 14/20 | 1 | ENSP00000483145.1 | |||
RECQL4 | ENST00000534626.6 | c.925G>T | p.Ala309Ser | missense_variant, splice_region_variant | 6/8 | 5 | ENSP00000477457.1 | |||
ENSG00000265393 | ENST00000580385.1 | n.271+10C>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1452704Hom.: 0 Cov.: 67 AF XY: 0.00000139 AC XY: 1AN XY: 721978
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.