8-144511551-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004260.4(RECQL4):c.3507C>A(p.Ser1169Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,612,028 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004260.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245628Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134190
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1459816Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 726142
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74372
ClinVar
Submissions by phenotype
Baller-Gerold syndrome Uncertain:1
This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1169 of the RECQL4 protein (p.Ser1169Arg). This variant is present in population databases (rs370738615, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at