NM_004260.4:c.1444C>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004260.4(RECQL4):āc.1444C>Gā(p.Arg482Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000656 in 152,344 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R482C) has been classified as Likely benign.
Frequency
Consequence
NM_004260.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RECQL4 | ENST00000617875.6 | c.1444C>G | p.Arg482Gly | missense_variant | Exon 8 of 21 | 1 | NM_004260.4 | ENSP00000482313.2 | ||
RECQL4 | ENST00000621189.4 | c.373C>G | p.Arg125Gly | missense_variant | Exon 7 of 20 | 1 | ENSP00000483145.1 | |||
RECQL4 | ENST00000532846.2 | c.328C>G | p.Arg110Gly | missense_variant | Exon 4 of 9 | 5 | ENSP00000476551.1 | |||
RECQL4 | ENST00000688394.1 | n.467C>G | non_coding_transcript_exon_variant | Exon 2 of 4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152226Hom.: 0 Cov.: 34
GnomAD4 exome Cov.: 33
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152344Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74496
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at