chr11-128485068-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001143820.2(ETS1):āc.617A>Gā(p.Tyr206Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00316 in 1,609,420 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001143820.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00222 AC: 337AN: 152104Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00215 AC: 535AN: 249310Hom.: 3 AF XY: 0.00205 AC XY: 276AN XY: 134684
GnomAD4 exome AF: 0.00325 AC: 4743AN: 1457198Hom.: 10 Cov.: 31 AF XY: 0.00321 AC XY: 2327AN XY: 724136
GnomAD4 genome AF: 0.00221 AC: 337AN: 152222Hom.: 2 Cov.: 32 AF XY: 0.00218 AC XY: 162AN XY: 74436
ClinVar
Submissions by phenotype
not specified Uncertain:1
- -
ETS1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at