8-144517118-G-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_004260.4(RECQL4):c.286C>A(p.Arg96Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000788 in 1,612,298 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004260.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000407 AC: 62AN: 152242Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000936 AC: 23AN: 245684Hom.: 0 AF XY: 0.0000521 AC XY: 7AN XY: 134306
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1459938Hom.: 0 Cov.: 31 AF XY: 0.0000413 AC XY: 30AN XY: 726258
GnomAD4 genome AF: 0.000407 AC: 62AN: 152360Hom.: 0 Cov.: 34 AF XY: 0.000403 AC XY: 30AN XY: 74504
ClinVar
Submissions by phenotype
Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
not provided Benign:1
RECQL4: BP4, BP7 -
Hereditary cancer-predisposing syndrome 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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at