chr6-3076962-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001317061.3(RIPK1):c.-465G>A variant causes a 5 prime UTR premature start codon gain change. The variant allele was found at a frequency of 0.00000343 in 1,457,924 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001317061.3 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RIPK1 | NM_001354930.2 | c.139G>A | p.Val47Met | missense_variant | Exon 2 of 11 | ENST00000259808.9 | NP_001341859.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1457924Hom.: 0 Cov.: 34 AF XY: 0.00000552 AC XY: 4AN XY: 725168
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.139G>A (p.V47M) alteration is located in exon 1 (coding exon 1) of the RIPK1 gene. This alteration results from a G to A substitution at nucleotide position 139, causing the valine (V) at amino acid position 47 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
Publications
No publications associated with this variant yet.