chr12-26068699-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001394098.1(RASSF8):c.1141G>A(p.Ala381Thr) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000241 in 1,536,706 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394098.1 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RASSF8 | NM_001394098.1 | c.1141G>A | p.Ala381Thr | missense_variant, splice_region_variant | 6/6 | ENST00000689635.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RASSF8 | ENST00000689635.1 | c.1141G>A | p.Ala381Thr | missense_variant, splice_region_variant | 6/6 | NM_001394098.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000112 AC: 17AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000138 AC: 2AN: 145452Hom.: 0 AF XY: 0.0000129 AC XY: 1AN XY: 77406
GnomAD4 exome AF: 0.0000144 AC: 20AN: 1384572Hom.: 0 Cov.: 29 AF XY: 0.0000102 AC XY: 7AN XY: 683234
GnomAD4 genome ? AF: 0.000112 AC: 17AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 07, 2022 | The c.1141G>A (p.A381T) alteration is located in exon 5 (coding exon 4) of the RASSF8 gene. This alteration results from a G to A substitution at nucleotide position 1141, causing the alanine (A) at amino acid position 381 to be replaced by a threonine (T). 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