8-144517466-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_004260.4(RECQL4):c.161A>G(p.Gln54Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00387 in 1,596,194 control chromosomes in the GnomAD database, including 43 homozygotes. In-silico tool predicts a benign outcome for this variant. 8/12 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004260.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00963 AC: 1465AN: 152116Hom.: 11 Cov.: 35
GnomAD3 exomes AF: 0.00365 AC: 776AN: 212724Hom.: 4 AF XY: 0.00334 AC XY: 395AN XY: 118178
GnomAD4 exome AF: 0.00325 AC: 4692AN: 1443964Hom.: 31 Cov.: 32 AF XY: 0.00308 AC XY: 2208AN XY: 717566
GnomAD4 genome AF: 0.00973 AC: 1481AN: 152230Hom.: 12 Cov.: 35 AF XY: 0.00940 AC XY: 700AN XY: 74452
ClinVar
Submissions by phenotype
not specified Benign:4Other:1
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not provided Benign:4
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Rothmund-Thomson syndrome type 2 Benign:1
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Baller-Gerold syndrome Benign:1
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Hereditary cancer-predisposing syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at