chr12-26068709-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001394098.1(RASSF8):c.1151A>C(p.Gln384Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000722 in 1,384,974 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394098.1 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 |
---|---|---|---|---|---|---|---|
RASSF8 | NM_001394098.1 | c.1151A>C | p.Gln384Pro | missense_variant | 6/6 | ENST00000689635.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RASSF8 | ENST00000689635.1 | c.1151A>C | p.Gln384Pro | missense_variant | 6/6 | NM_001394098.1 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 7.22e-7 AC: 1AN: 1384974Hom.: 0 Cov.: 29 AF XY: 0.00000146 AC XY: 1AN XY: 683400
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 22, 2023 | The c.1151A>C (p.Q384P) alteration is located in exon 5 (coding exon 4) of the RASSF8 gene. This alteration results from a A to C substitution at nucleotide position 1151, causing the glutamine (Q) at amino acid position 384 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.