3-183806890-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_ModerateBS2
The NM_018023.5(YEATS2):c.3809C>T(p.Ala1270Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,720 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A1270G) has been classified as Uncertain significance.
Frequency
Consequence
NM_018023.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
YEATS2 | ENST00000305135.10 | c.3809C>T | p.Ala1270Val | missense_variant | Exon 28 of 31 | 1 | NM_018023.5 | ENSP00000306983.5 | ||
YEATS2-AS1 | ENST00000425008.3 | n.2009G>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 4 | |||||
YEATS2 | ENST00000472593.1 | n.3237C>T | non_coding_transcript_exon_variant | Exon 2 of 5 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461720Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727168
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at