rs544759335
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001963.6(EGF):āc.99C>Gā(p.Leu33Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,594 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_001963.6 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EGF | NM_001963.6 | c.99C>G | p.Leu33Leu | synonymous_variant | Exon 1 of 24 | ENST00000265171.10 | NP_001954.2 | |
EGF | NM_001178130.3 | c.99C>G | p.Leu33Leu | synonymous_variant | Exon 1 of 23 | NP_001171601.1 | ||
EGF | NM_001178131.3 | c.99C>G | p.Leu33Leu | synonymous_variant | Exon 1 of 23 | NP_001171602.1 | ||
EGF | NM_001357021.2 | c.99C>G | p.Leu33Leu | synonymous_variant | Exon 1 of 20 | NP_001343950.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EGF | ENST00000265171.10 | c.99C>G | p.Leu33Leu | synonymous_variant | Exon 1 of 24 | 1 | NM_001963.6 | ENSP00000265171.5 | ||
EGF | ENST00000503392.1 | c.99C>G | p.Leu33Leu | synonymous_variant | Exon 1 of 23 | 1 | ENSP00000421384.1 | |||
EGF | ENST00000509793.5 | c.99C>G | p.Leu33Leu | synonymous_variant | Exon 1 of 23 | 2 | ENSP00000424316.1 | |||
EGF | ENST00000652245.1 | c.99C>G | p.Leu33Leu | synonymous_variant | Exon 1 of 20 | ENSP00000498337.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249716Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135086
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461594Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727090
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at