rs563679311
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS1
The NM_152383.5(DIS3L2):c.1911A>C(p.Ala637=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000375 in 1,610,584 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. A637A) has been classified as Likely benign.
Frequency
Consequence
NM_152383.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DIS3L2 | NM_152383.5 | c.1911A>C | p.Ala637= | synonymous_variant | 15/21 | ENST00000325385.12 | |
DIS3L2 | NM_001257281.2 | c.1582-13361A>C | intron_variant | ||||
DIS3L2 | NR_046476.2 | n.1984A>C | non_coding_transcript_exon_variant | 15/21 | |||
DIS3L2 | NR_046477.2 | n.1963A>C | non_coding_transcript_exon_variant | 14/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DIS3L2 | ENST00000325385.12 | c.1911A>C | p.Ala637= | synonymous_variant | 15/21 | 5 | NM_152383.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000236 AC: 36AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000722 AC: 177AN: 245168Hom.: 1 AF XY: 0.00102 AC XY: 136AN XY: 133306
GnomAD4 exome AF: 0.000390 AC: 568AN: 1458228Hom.: 5 Cov.: 35 AF XY: 0.000525 AC XY: 381AN XY: 725298
GnomAD4 genome ? AF: 0.000236 AC: 36AN: 152356Hom.: 0 Cov.: 33 AF XY: 0.000336 AC XY: 25AN XY: 74506
ClinVar
Submissions by phenotype
Perlman syndrome Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 26, 2024 | - - |
Likely benign, criteria provided, single submitter | curation | Sema4, Sema4 | Dec 17, 2021 | - - |
DIS3L2-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 11, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jun 01, 2023 | DIS3L2: BP4, BP7 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at