rs369852601
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_004260.4(RECQL4):c.1625C>T(p.Ser542Phe) variant causes a missense change. The variant allele was found at a frequency of 0.000807 in 1,611,196 control chromosomes in the GnomAD database, including 25 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. S542S) has been classified 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: 0.000493 AC: 75AN: 152130Hom.: 3 Cov.: 34
GnomAD3 exomes AF: 0.00166 AC: 407AN: 244764Hom.: 5 AF XY: 0.00226 AC XY: 302AN XY: 133578
GnomAD4 exome AF: 0.000842 AC: 1228AN: 1458948Hom.: 22 Cov.: 36 AF XY: 0.00121 AC XY: 881AN XY: 725634
GnomAD4 genome AF: 0.000479 AC: 73AN: 152248Hom.: 3 Cov.: 34 AF XY: 0.000672 AC XY: 50AN XY: 74456
ClinVar
Submissions by phenotype
not provided Benign:2
RECQL4: BS1, BS2 -
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Rapadilino syndrome Benign:1
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Rothmund-Thomson syndrome type 2 Benign:1
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Baller-Gerold syndrome Benign:1
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RECQL4-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not specified Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at