4-73576656-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_177532.5(RASSF6):c.797G>T(p.Arg266Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,613,412 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R266H) has been classified as Uncertain significance.
Frequency
Consequence
NM_177532.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASSF6 | ENST00000307439.10 | c.797G>T | p.Arg266Leu | missense_variant | Exon 9 of 11 | 1 | NM_177532.5 | ENSP00000303877.5 | ||
RASSF6 | ENST00000335049.5 | c.761G>T | p.Arg254Leu | missense_variant | Exon 8 of 10 | 1 | ENSP00000335582.5 | |||
RASSF6 | ENST00000395777.6 | c.695G>T | p.Arg232Leu | missense_variant | Exon 8 of 10 | 1 | ENSP00000379123.2 | |||
RASSF6 | ENST00000342081.7 | c.893G>T | p.Arg298Leu | missense_variant | Exon 9 of 11 | 2 | ENSP00000340578.3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251126Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135730
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461282Hom.: 0 Cov.: 30 AF XY: 0.0000248 AC XY: 18AN XY: 726976
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.893G>T (p.R298L) alteration is located in exon 9 (coding exon 9) of the RASSF6 gene. This alteration results from a G to T substitution at nucleotide position 893, causing the arginine (R) at amino acid position 298 to be replaced by a leucine (L). 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