3-38454331-G-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001106.4(ACVR2B):c.9G>T(p.Ala3Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000262 in 1,146,866 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_001106.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
ACVR2B | ENST00000352511.5 | c.9G>T | p.Ala3Ala | synonymous_variant | Exon 1 of 11 | 1 | NM_001106.4 | ENSP00000340361.3 | ||
ACVR2B | ENST00000465020.5 | n.13G>T | non_coding_transcript_exon_variant | Exon 1 of 10 | 2 | |||||
ACVR2B-AS1 | ENST00000441531.1 | n.318+172C>A | intron_variant | Intron 1 of 1 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000262 AC: 3AN: 1146866Hom.: 0 Cov.: 30 AF XY: 0.00000180 AC XY: 1AN XY: 554548
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at