12-21470214-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002907.4(RECQL):c.1930A>G(p.Arg644Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002907.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RECQL | ENST00000444129.7 | c.1930A>G | p.Arg644Gly | missense_variant | Exon 15 of 15 | 2 | NM_002907.4 | ENSP00000416739.2 | ||
RECQL | ENST00000421138.6 | c.1930A>G | p.Arg644Gly | missense_variant | Exon 16 of 16 | 1 | ENSP00000395449.2 | |||
PYROXD1 | ENST00000240651.14 | c.*1460T>C | 3_prime_UTR_variant | Exon 12 of 12 | 1 | NM_024854.5 | ENSP00000240651.9 | |||
PYROXD1 | ENST00000538582.5 | c.*1460T>C | 3_prime_UTR_variant | Exon 12 of 12 | 2 | ENSP00000438505.1 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome Cov.: 38
GnomAD4 genome Cov.: 29
ClinVar
Submissions by phenotype
not provided Uncertain:1
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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RECQL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 644 of the RECQL protein (p.Arg644Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at