6-138844430-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001077706.3(ECT2L):c.614G>T(p.Arg205Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,613,566 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R205Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001077706.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ECT2L | NM_001077706.3 | c.614G>T | p.Arg205Leu | missense_variant | 7/22 | ENST00000541398.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ECT2L | ENST00000541398.7 | c.614G>T | p.Arg205Leu | missense_variant | 7/22 | 5 | NM_001077706.3 | P1 | |
ECT2L | ENST00000367682.6 | c.614G>T | p.Arg205Leu | missense_variant | 6/21 | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249432Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135338
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461446Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 727000
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74316
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at