chr19-35718131-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014727.3(KMT2B):āc.113A>Gā(p.Asn38Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014727.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KMT2B | NM_014727.3 | c.113A>G | p.Asn38Ser | missense_variant | 1/37 | ENST00000420124.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KMT2B | ENST00000420124.4 | c.113A>G | p.Asn38Ser | missense_variant | 1/37 | 1 | NM_014727.3 | P2 | |
KMT2B | ENST00000673918.2 | c.113A>G | p.Asn38Ser | missense_variant | 1/37 | A2 | |||
KMT2B | ENST00000692961.1 | c.113A>G | p.Asn38Ser | missense_variant, NMD_transcript_variant | 1/36 | ||||
KMT2B | ENST00000687718.1 | c.113A>G | p.Asn38Ser | missense_variant, NMD_transcript_variant | 1/3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 877680Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 408928
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2023 | The c.113A>G (p.N38S) alteration is located in exon 1 (coding exon 1) of the KMT2B gene. This alteration results from a A to G substitution at nucleotide position 113, causing the asparagine (N) at amino acid position 38 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.