11-77667174-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016578.4(RSF1):c.4069G>A(p.Val1357Met) variant causes a missense change. The variant allele was found at a frequency of 0.00000657 in 152,242 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016578.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RSF1 | NM_016578.4 | c.4069G>A | p.Val1357Met | missense_variant | Exon 16 of 16 | ENST00000308488.11 | NP_057662.3 | |
RSF1 | XM_005274051.3 | c.4060G>A | p.Val1354Met | missense_variant | Exon 16 of 16 | XP_005274108.1 | ||
RSF1 | XM_017017923.2 | c.3946G>A | p.Val1316Met | missense_variant | Exon 16 of 16 | XP_016873412.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RSF1 | ENST00000308488.11 | c.4069G>A | p.Val1357Met | missense_variant | Exon 16 of 16 | 1 | NM_016578.4 | ENSP00000311513.6 | ||
RSF1 | ENST00000480887.5 | c.3313G>A | p.Val1105Met | missense_variant | Exon 11 of 11 | 1 | ENSP00000434509.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251432Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135894
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4069G>A (p.V1357M) alteration is located in exon 16 (coding exon 16) of the RSF1 gene. This alteration results from a G to A substitution at nucleotide position 4069, causing the valine (V) at amino acid position 1357 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