NM_001195626.3:c.1140A>C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001195626.3(MLLT10):āc.1140A>Cā(p.Ser380Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,240 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. Synonymous variant affecting the same amino acid position (i.e. S380S) has been classified as Likely benign.
Frequency
Consequence
NM_001195626.3 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 |
---|---|---|---|---|---|---|---|---|
MLLT10 | NM_001195626.3 | c.1140A>C | p.Ser380Ser | synonymous_variant | Exon 11 of 23 | ENST00000307729.12 | NP_001182555.1 | |
MLLT10 | NM_004641.4 | c.1140A>C | p.Ser380Ser | synonymous_variant | Exon 11 of 24 | NP_004632.1 | ||
MLLT10 | NM_001324297.2 | c.405A>C | p.Ser135Ser | synonymous_variant | Exon 13 of 25 | NP_001311226.1 | ||
MLLT10 | NR_136736.2 | n.1607A>C | non_coding_transcript_exon_variant | Exon 12 of 26 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151484Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251120Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135692
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461756Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 727178
GnomAD4 genome AF: 0.00000660 AC: 1AN: 151484Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73898
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at