chr17-35548778-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001129820.2(SLFN14):āc.2200T>Gā(p.Cys734Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000561 in 1,551,616 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001129820.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLFN14 | NM_001129820.2 | c.2200T>G | p.Cys734Gly | missense_variant | 6/6 | ENST00000674182.1 | |
SLFN14 | XM_017024577.2 | c.2200T>G | p.Cys734Gly | missense_variant | 6/6 | ||
SLFN14 | XM_017024578.2 | c.2200T>G | p.Cys734Gly | missense_variant | 5/5 | ||
SLFN14 | XM_017024579.2 | c.2200T>G | p.Cys734Gly | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLFN14 | ENST00000674182.1 | c.2200T>G | p.Cys734Gly | missense_variant | 6/6 | NM_001129820.2 | P1 | ||
SLFN14 | ENST00000415846.3 | c.2200T>G | p.Cys734Gly | missense_variant | 4/4 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000195 AC: 3AN: 153948Hom.: 0 AF XY: 0.0000245 AC XY: 2AN XY: 81688
GnomAD4 exome AF: 0.0000586 AC: 82AN: 1399396Hom.: 0 Cov.: 33 AF XY: 0.0000594 AC XY: 41AN XY: 690206
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at