rs745923592
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004260.4(RECQL4):c.1175G>T(p.Gly392Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,460,602 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/13 in silico tools predict a benign 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. G392A) 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RECQL4 | NM_004260.4 | c.1175G>T | p.Gly392Val | missense_variant | 6/21 | ENST00000617875.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RECQL4 | ENST00000617875.6 | c.1175G>T | p.Gly392Val | missense_variant | 6/21 | 1 | NM_004260.4 | P1 | |
RECQL4 | ENST00000621189.4 | c.104G>T | p.Gly35Val | missense_variant | 5/20 | 1 | |||
RECQL4 | ENST00000532846.2 | c.62G>T | p.Gly21Val | missense_variant | 2/9 | 5 | |||
RECQL4 | ENST00000524998.1 | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 247218Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134672
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460602Hom.: 0 Cov.: 65 AF XY: 0.00000413 AC XY: 3AN XY: 726546
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at