12-21470206-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002907.4(RECQL):āc.1938C>Gā(p.Ile646Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,714 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002907.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RECQL | ENST00000444129.7 | c.1938C>G | p.Ile646Met | missense_variant | Exon 15 of 15 | 2 | NM_002907.4 | ENSP00000416739.2 | ||
RECQL | ENST00000421138.6 | c.1938C>G | p.Ile646Met | missense_variant | Exon 16 of 16 | 1 | ENSP00000395449.2 | |||
PYROXD1 | ENST00000240651.14 | c.*1452G>C | 3_prime_UTR_variant | Exon 12 of 12 | 1 | NM_024854.5 | ENSP00000240651.9 | |||
PYROXD1 | ENST00000538582.5 | c.*1452G>C | 3_prime_UTR_variant | Exon 12 of 12 | 2 | ENSP00000438505.1 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459714Hom.: 0 Cov.: 38 AF XY: 0.00000138 AC XY: 1AN XY: 726154
GnomAD4 genome Cov.: 29
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.