Our verdict is Benign. The variant received -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_004260.4(RECQL4):c.3162C>T(p.Phe1054Phe) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000279 in 1,612,330 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 (★).
RECQL4 (HGNC:9949): (RecQ like helicase 4) The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
Our verdict: Benign. The variant received -7 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.52).
BP6
Variant 8-144512218-G-A is Benign according to our data. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars. Variant chr8-144512218-G-A is described in CliVar as Likely_benign. Clinvar id is 239758.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=0.377 with no splicing effect.
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). -