chr8-144511434-G-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_004260.4(RECQL4):c.3624C>T(p.Arg1208=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000701 in 1,612,384 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. R1208R) 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.3624C>T | p.Arg1208= | synonymous_variant | 21/21 | ENST00000617875.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RECQL4 | ENST00000617875.6 | c.3624C>T | p.Arg1208= | synonymous_variant | 21/21 | 1 | NM_004260.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000361 AC: 55AN: 152248Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000968 AC: 24AN: 247902Hom.: 0 AF XY: 0.0000666 AC XY: 9AN XY: 135054
GnomAD4 exome AF: 0.0000397 AC: 58AN: 1460018Hom.: 0 Cov.: 32 AF XY: 0.0000303 AC XY: 22AN XY: 726228
GnomAD4 genome AF: 0.000361 AC: 55AN: 152366Hom.: 0 Cov.: 34 AF XY: 0.000336 AC XY: 25AN XY: 74500
ClinVar
Submissions by phenotype
Baller-Gerold syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 19, 2024 | - - |
Hereditary cancer-predisposing syndrome Benign:1
Likely benign, criteria provided, single submitter | curation | Sema4, Sema4 | Jan 29, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at