1-41017802-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_144990.4(SLFNL1):c.790G>A(p.Asp264Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000187 in 1,601,556 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144990.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLFNL1 | NM_144990.4 | c.790G>A | p.Asp264Asn | missense_variant | Exon 4 of 6 | ENST00000302946.13 | NP_659427.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000122 AC: 3AN: 244954Hom.: 0 AF XY: 0.00000755 AC XY: 1AN XY: 132402
GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1449254Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 718768
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.790G>A (p.D264N) alteration is located in exon 4 (coding exon 2) of the SLFNL1 gene. This alteration results from a G to A substitution at nucleotide position 790, causing the aspartic acid (D) at amino acid position 264 to be replaced by an asparagine (N). 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