rs1016687510
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000617875.6(RECQL4):c.1085A>T(p.His362Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 10/13 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. H362Q) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000617875.6 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RECQL4 | NM_004260.4 | c.1085A>T | p.His362Leu | missense_variant | 5/21 | ENST00000617875.6 | NP_004251.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RECQL4 | ENST00000617875.6 | c.1085A>T | p.His362Leu | missense_variant | 5/21 | 1 | NM_004260.4 | ENSP00000482313 | P1 | |
RECQL4 | ENST00000621189.4 | c.14A>T | p.His5Leu | missense_variant | 4/20 | 1 | ENSP00000483145 | |||
RECQL4 | ENST00000524998.1 | c.608A>T | p.His203Leu | missense_variant | 3/4 | 3 | ENSP00000476579 | |||
RECQL4 | ENST00000532846.2 | upstream_gene_variant | 5 | ENSP00000476551 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Cov.: 66
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at