17-35422134-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018042.5(SLFN12):āc.895T>Gā(p.Cys299Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,986 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_018042.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLFN12 | NM_018042.5 | c.895T>G | p.Cys299Gly | missense_variant | 2/4 | ENST00000304905.10 | NP_060512.3 | |
SLFN12 | NM_001289009.2 | c.895T>G | p.Cys299Gly | missense_variant | 2/4 | NP_001275938.1 | ||
SLFN12 | XM_005257995.6 | c.895T>G | p.Cys299Gly | missense_variant | 3/5 | XP_005258052.1 | ||
SLFN12 | XM_024450822.2 | c.895T>G | p.Cys299Gly | missense_variant | 4/6 | XP_024306590.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLFN12 | ENST00000304905.10 | c.895T>G | p.Cys299Gly | missense_variant | 2/4 | 1 | NM_018042.5 | ENSP00000302077.5 | ||
SLFN12 | ENST00000394562.5 | c.895T>G | p.Cys299Gly | missense_variant | 4/6 | 1 | ENSP00000378063.1 | |||
SLFN12 | ENST00000452764.3 | c.895T>G | p.Cys299Gly | missense_variant | 2/4 | 2 | ENSP00000394903.2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152142Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251476Hom.: 0 AF XY: 0.0000441 AC XY: 6AN XY: 135912
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461844Hom.: 0 Cov.: 35 AF XY: 0.0000193 AC XY: 14AN XY: 727218
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152142Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 06, 2023 | The c.895T>G (p.C299G) alteration is located in exon 2 (coding exon 1) of the SLFN12 gene. This alteration results from a T to G substitution at nucleotide position 895, causing the cysteine (C) at amino acid position 299 to be replaced by a glycine (G). 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