chr5-56913933-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_153706.4(SETD9):c.650C>T(p.Thr217Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000341 in 1,613,798 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153706.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000915 AC: 23AN: 251454Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135904
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461710Hom.: 0 Cov.: 31 AF XY: 0.0000413 AC XY: 30AN XY: 727178
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74278
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.650C>T (p.T217M) alteration is located in exon 4 (coding exon 4) of the SETD9 gene. This alteration results from a C to T substitution at nucleotide position 650, causing the threonine (T) at amino acid position 217 to be replaced by a methionine (M). 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