chr17-75627671-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004259.7(RECQL5):c.2827C>T(p.Arg943Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000178 in 1,457,404 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R943H) has been classified as Benign.
Frequency
Consequence
NM_004259.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RECQL5 | NM_004259.7 | c.2827C>T | p.Arg943Cys | missense_variant | 19/20 | ENST00000317905.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RECQL5 | ENST00000317905.10 | c.2827C>T | p.Arg943Cys | missense_variant | 19/20 | 1 | NM_004259.7 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000251 AC: 6AN: 238748Hom.: 0 AF XY: 0.0000154 AC XY: 2AN XY: 129880
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1457404Hom.: 0 Cov.: 31 AF XY: 0.0000166 AC XY: 12AN XY: 724492
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 17, 2024 | The c.2827C>T (p.R943C) alteration is located in exon 19 (coding exon 18) of the RECQL5 gene. This alteration results from a C to T substitution at nucleotide position 2827, causing the arginine (R) at amino acid position 943 to be replaced by a cysteine (C). 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