chr12-21470226-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002907.4(RECQL):c.1918G>A(p.Gly640Arg) 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. 15/21 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RECQL | NM_002907.4 | c.1918G>A | p.Gly640Arg | missense_variant | 15/15 | ENST00000444129.7 | NP_002898.2 | |
PYROXD1 | NM_024854.5 | c.*1472C>T | 3_prime_UTR_variant | 12/12 | ENST00000240651.14 | NP_079130.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RECQL | ENST00000444129.7 | c.1918G>A | p.Gly640Arg | missense_variant | 15/15 | 2 | NM_002907.4 | ENSP00000416739 | P1 | |
RECQL | ENST00000421138.6 | c.1918G>A | p.Gly640Arg | missense_variant | 16/16 | 1 | ENSP00000395449 | P1 | ||
PYROXD1 | ENST00000240651.14 | c.*1472C>T | 3_prime_UTR_variant | 12/12 | 1 | NM_024854.5 | ENSP00000240651 | P1 | ||
PYROXD1 | ENST00000538582.5 | c.*1472C>T | 3_prime_UTR_variant | 12/12 | 2 | ENSP00000438505 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome Cov.: 38
GnomAD4 genome Cov.: 29
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 27, 2023 | The p.G640R variant (also known as c.1918G>A), located in coding exon 14 of the RECQL gene, results from a G to A substitution at nucleotide position 1918. The glycine at codon 640 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.