rs773560213
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004260.4(RECQL4):c.1545A>T(p.Pro515=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,458,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P515P) has been classified as Likely benign.
Frequency
Consequence
NM_004260.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RECQL4 | NM_004260.4 | c.1545A>T | p.Pro515= | synonymous_variant | 9/21 | ENST00000617875.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RECQL4 | ENST00000617875.6 | c.1545A>T | p.Pro515= | synonymous_variant | 9/21 | 1 | NM_004260.4 | P1 | |
RECQL4 | ENST00000621189.4 | c.474A>T | p.Pro158= | synonymous_variant | 8/20 | 1 | |||
RECQL4 | ENST00000532846.2 | c.402A>T | p.Pro134= | synonymous_variant | 5/9 | 5 | |||
RECQL4 | ENST00000688394.1 | n.568A>T | non_coding_transcript_exon_variant | 3/4 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243058Hom.: 0 AF XY: 0.00000753 AC XY: 1AN XY: 132834
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1458838Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 725576
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at