rs587778449
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PM4BP6_Very_StrongBS1BS2
The NM_003482.4(KMT2D):c.2250_2276del(p.Arg755_Pro763del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00101 in 1,603,084 control chromosomes in the GnomAD database, including 11 homozygotes. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. P750P) has been classified as Likely benign.
Frequency
Consequence
NM_003482.4 inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KMT2D | NM_003482.4 | c.2250_2276del | p.Arg755_Pro763del | inframe_deletion | 11/55 | ENST00000301067.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KMT2D | ENST00000301067.12 | c.2250_2276del | p.Arg755_Pro763del | inframe_deletion | 11/55 | 5 | NM_003482.4 | A2 | |
KMT2D | ENST00000683543.2 | c.2250_2276del | p.Arg755_Pro763del | inframe_deletion | 11/56 | P4 | |||
KMT2D | ENST00000685166.1 | c.2250_2276del | p.Arg755_Pro763del | inframe_deletion | 10/54 | A2 | |||
KMT2D | ENST00000692637.1 | c.2250_2276del | p.Arg755_Pro763del | inframe_deletion | 10/54 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00535 AC: 766AN: 143200Hom.: 8 Cov.: 31
GnomAD3 exomes AF: 0.00128 AC: 309AN: 242168Hom.: 0 AF XY: 0.00101 AC XY: 134AN XY: 132466
GnomAD4 exome AF: 0.000579 AC: 845AN: 1459766Hom.: 3 AF XY: 0.000549 AC XY: 399AN XY: 726154
GnomAD4 genome ? AF: 0.00537 AC: 769AN: 143318Hom.: 8 Cov.: 31 AF XY: 0.00516 AC XY: 362AN XY: 70210
ClinVar
Submissions by phenotype
not specified Benign:2Other:1
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | May 30, 2017 | - - |
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Apr 13, 2016 | - - |
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Sep 01, 2016 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 15, 2020 | - - |
Kabuki syndrome 1 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
Kabuki syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at