rs368736533
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_004260.4(RECQL4):c.1869C>T(p.Arg623=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000893 in 1,612,124 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 (★★). Synonymous variant affecting the same amino acid position (i.e. R623R) has been classified 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RECQL4 | NM_004260.4 | c.1869C>T | p.Arg623= | synonymous_variant | 11/21 | ENST00000617875.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RECQL4 | ENST00000617875.6 | c.1869C>T | p.Arg623= | synonymous_variant | 11/21 | 1 | NM_004260.4 | P1 | |
RECQL4 | ENST00000621189.4 | c.798C>T | p.Arg266= | synonymous_variant | 10/20 | 1 | |||
RECQL4 | ENST00000534626.6 | c.240C>T | p.Arg80= | synonymous_variant | 2/8 | 5 | |||
RECQL4 | ENST00000532846.2 | c.726C>T | p.Arg242= | synonymous_variant | 7/9 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152018Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000694 AC: 17AN: 244906Hom.: 0 AF XY: 0.0000449 AC XY: 6AN XY: 133556
GnomAD4 exome AF: 0.0000904 AC: 132AN: 1460106Hom.: 0 Cov.: 36 AF XY: 0.0000881 AC XY: 64AN XY: 726340
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152018Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74238
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Apr 01, 2023 | RECQL4: BP4, BP7 - |
Baller-Gerold syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 07, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at