chr1-41017736-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_144990.4(SLFNL1):c.856G>T(p.Asp286Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000181 in 1,605,598 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLFNL1 | NM_144990.4 | c.856G>T | p.Asp286Tyr | missense_variant | Exon 4 of 6 | ENST00000302946.13 | NP_659427.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000122 AC: 3AN: 245930Hom.: 0 AF XY: 0.0000226 AC XY: 3AN XY: 132906
GnomAD4 exome AF: 0.0000193 AC: 28AN: 1453462Hom.: 0 Cov.: 31 AF XY: 0.0000222 AC XY: 16AN XY: 721866
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.856G>T (p.D286Y) alteration is located in exon 4 (coding exon 2) of the SLFNL1 gene. This alteration results from a G to T substitution at nucleotide position 856, causing the aspartic acid (D) at amino acid position 286 to be replaced by a tyrosine (Y). 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