12-64688349-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_178169.4(RASSF3):c.353C>G(p.Thr118Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,614,116 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178169.4 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 | UniProt |
---|---|---|---|---|---|---|---|
RASSF3 | NM_178169.4 | c.353C>G | p.Thr118Arg | missense_variant | 3/5 | ENST00000542104.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RASSF3 | ENST00000542104.6 | c.353C>G | p.Thr118Arg | missense_variant | 3/5 | 1 | NM_178169.4 | P2 | |
RASSF3 | ENST00000637125.1 | c.536C>G | p.Thr179Arg | missense_variant | 4/6 | 5 | A2 | ||
RASSF3 | ENST00000283172.8 | c.220-3121C>G | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152238Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251476Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135910
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461878Hom.: 0 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 727240
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 18, 2023 | The c.353C>G (p.T118R) alteration is located in exon 3 (coding exon 3) of the RASSF3 gene. This alteration results from a C to G substitution at nucleotide position 353, causing the threonine (T) at amino acid position 118 to be replaced by an arginine (R). 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