rs148745324
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_021937.5(EEFSEC):āc.144G>Cā(p.Thr48Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000488 in 1,598,440 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.
Frequency
Consequence
NM_021937.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EEFSEC | ENST00000254730.11 | c.144G>C | p.Thr48Thr | synonymous_variant | Exon 1 of 7 | 1 | NM_021937.5 | ENSP00000254730.5 | ||
EEFSEC | ENST00000483457.1 | c.144G>C | p.Thr48Thr | synonymous_variant | Exon 1 of 5 | 5 | ENSP00000417660.1 | |||
RUVBL1 | ENST00000464873.5 | c.-488C>G | 5_prime_UTR_variant | Exon 1 of 10 | 2 | ENSP00000420738.1 | ||||
EEFSEC | ENST00000484438.1 | n.-17G>C | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152144Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.000122 AC: 27AN: 221714Hom.: 0 AF XY: 0.000130 AC XY: 16AN XY: 123320
GnomAD4 exome AF: 0.0000491 AC: 71AN: 1446188Hom.: 0 Cov.: 31 AF XY: 0.0000681 AC XY: 49AN XY: 719778
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152252Hom.: 0 Cov.: 29 AF XY: 0.0000672 AC XY: 5AN XY: 74430
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at