chr3-39407646-T-C
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBA1
The NM_002295.6(RPSA):c.-8T>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.49 in 1,581,046 control chromosomes in the GnomAD database, including 193,633 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002295.6 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPSA | NM_002295.6 | c.-8T>C | 5_prime_UTR_variant | Exon 2 of 7 | ENST00000301821.11 | NP_002286.2 | ||
RPSA | NM_001304288.2 | c.-8T>C | 5_prime_UTR_variant | Exon 2 of 7 | NP_001291217.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.495 AC: 75272AN: 151926Hom.: 18981 Cov.: 32
GnomAD3 exomes AF: 0.460 AC: 107557AN: 233646Hom.: 25487 AF XY: 0.460 AC XY: 59049AN XY: 128450
GnomAD4 exome AF: 0.489 AC: 699472AN: 1429002Hom.: 174618 Cov.: 32 AF XY: 0.486 AC XY: 345893AN XY: 712156
GnomAD4 genome AF: 0.496 AC: 75360AN: 152044Hom.: 19015 Cov.: 32 AF XY: 0.489 AC XY: 36346AN XY: 74318
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
- -
Familial isolated congenital asplenia Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at