chr8-144514192-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004260.4(RECQL4):āc.1875C>Gā(p.Cys625Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,612,082 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C625Y) has been classified 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RECQL4 | NM_004260.4 | c.1875C>G | p.Cys625Trp | missense_variant | 11/21 | ENST00000617875.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RECQL4 | ENST00000617875.6 | c.1875C>G | p.Cys625Trp | missense_variant | 11/21 | 1 | NM_004260.4 | P1 | |
RECQL4 | ENST00000621189.4 | c.804C>G | p.Cys268Trp | missense_variant | 10/20 | 1 | |||
RECQL4 | ENST00000534626.6 | c.246C>G | p.Cys82Trp | missense_variant | 2/8 | 5 | |||
RECQL4 | ENST00000532846.2 | c.732C>G | p.Cys244Trp | missense_variant | 7/9 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152008Hom.: 0 Cov.: 34
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460074Hom.: 0 Cov.: 36 AF XY: 0.00000138 AC XY: 1AN XY: 726326
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152008Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74248
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at