2-60894435-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001291746.2(REL):c.192A>G(p.Thr64=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00259 in 1,586,002 control chromosomes in the GnomAD database, including 90 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. T64T) has been classified as Likely benign.
Frequency
Consequence
NM_001291746.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
REL | NM_001291746.2 | c.192A>G | p.Thr64= | synonymous_variant | 3/10 | ENST00000394479.4 | |
REL | NM_002908.4 | c.192A>G | p.Thr64= | synonymous_variant | 3/11 | ||
REL | XM_017004627.3 | c.192A>G | p.Thr64= | synonymous_variant | 3/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
REL | ENST00000394479.4 | c.192A>G | p.Thr64= | synonymous_variant | 3/10 | 1 | NM_001291746.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0145 AC: 2208AN: 152204Hom.: 54 Cov.: 32
GnomAD3 exomes AF: 0.00350 AC: 837AN: 239262Hom.: 16 AF XY: 0.00246 AC XY: 319AN XY: 129546
GnomAD4 exome AF: 0.00133 AC: 1901AN: 1433680Hom.: 35 Cov.: 27 AF XY: 0.00117 AC XY: 832AN XY: 713660
GnomAD4 genome ? AF: 0.0145 AC: 2212AN: 152322Hom.: 55 Cov.: 32 AF XY: 0.0136 AC XY: 1010AN XY: 74496
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at