rs74485823
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_014159.7(SETD2):c.4320A>T(p.Pro1440=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00148 in 1,613,926 control chromosomes in the GnomAD database, including 36 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. P1440P) has been classified as Likely benign.
Frequency
Consequence
NM_014159.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SETD2 | NM_014159.7 | c.4320A>T | p.Pro1440= | synonymous_variant | 3/21 | ENST00000409792.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SETD2 | ENST00000409792.4 | c.4320A>T | p.Pro1440= | synonymous_variant | 3/21 | 5 | NM_014159.7 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.00780 AC: 1187AN: 152148Hom.: 15 Cov.: 32
GnomAD3 exomes AF: 0.00191 AC: 478AN: 250804Hom.: 6 AF XY: 0.00132 AC XY: 179AN XY: 135560
GnomAD4 exome AF: 0.000821 AC: 1200AN: 1461660Hom.: 21 Cov.: 32 AF XY: 0.000678 AC XY: 493AN XY: 727132
GnomAD4 genome ? AF: 0.00780 AC: 1187AN: 152266Hom.: 15 Cov.: 32 AF XY: 0.00744 AC XY: 554AN XY: 74448
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Oct 23, 2018 | - - |
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Nov 08, 2019 | - - |
Luscan-Lumish syndrome Benign:2
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Mar 15, 2022 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 15, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 20, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at