17-75628268-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004259.7(RECQL5):c.2755G>A(p.Val919Met) variant causes a missense change. The variant allele was found at a frequency of 0.000031 in 1,614,176 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004259.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RECQL5 | NM_004259.7 | c.2755G>A | p.Val919Met | missense_variant | Exon 18 of 20 | ENST00000317905.10 | NP_004250.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RECQL5 | ENST00000317905.10 | c.2755G>A | p.Val919Met | missense_variant | Exon 18 of 20 | 1 | NM_004259.7 | ENSP00000317636.5 | ||
RECQL5 | ENST00000423245.6 | c.2674G>A | p.Val892Met | missense_variant | Exon 18 of 20 | 1 | ENSP00000394820.2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249486Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135382
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1461854Hom.: 0 Cov.: 32 AF XY: 0.0000303 AC XY: 22AN XY: 727226
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2755G>A (p.V919M) alteration is located in exon 18 (coding exon 17) of the RECQL5 gene. This alteration results from a G to A substitution at nucleotide position 2755, causing the valine (V) at amino acid position 919 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at