19-35718126-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_014727.3(KMT2B):c.108G>T(p.Arg36=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000115 in 869,924 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_014727.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KMT2B | NM_014727.3 | c.108G>T | p.Arg36= | synonymous_variant | 1/37 | ENST00000420124.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KMT2B | ENST00000420124.4 | c.108G>T | p.Arg36= | synonymous_variant | 1/37 | 1 | NM_014727.3 | P2 | |
KMT2B | ENST00000673918.2 | c.108G>T | p.Arg36= | synonymous_variant | 1/37 | A2 | |||
KMT2B | ENST00000692961.1 | c.108G>T | p.Arg36= | synonymous_variant, NMD_transcript_variant | 1/36 | ||||
KMT2B | ENST00000687718.1 | c.108G>T | p.Arg36= | synonymous_variant, NMD_transcript_variant | 1/3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000115 AC: 1AN: 869924Hom.: 0 Cov.: 31 AF XY: 0.00000247 AC XY: 1AN XY: 404790
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 02, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.