rs10515248
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001040458.3(ERAP1):c.*95G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.114 in 1,544,294 control chromosomes in the GnomAD database, including 10,911 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001040458.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ERAP1 | ENST00000443439 | c.*95G>A | 3_prime_UTR_variant | Exon 19 of 19 | 1 | NM_001040458.3 | ENSP00000406304.2 | |||
ERAP1 | ENST00000296754.7 | c.2818+103G>A | intron_variant | Intron 19 of 19 | 1 | ENSP00000296754.3 | ||||
CAST | ENST00000510098.1 | n.*351-567C>T | intron_variant | Intron 10 of 11 | 1 | ENSP00000427195.1 | ||||
ERAP1 | ENST00000512852.1 | c.352+103G>A | intron_variant | Intron 3 of 3 | 3 | ENSP00000425381.1 |
Frequencies
GnomAD3 genomes AF: 0.0909 AC: 13823AN: 152050Hom.: 828 Cov.: 32
GnomAD4 exome AF: 0.116 AC: 161975AN: 1392126Hom.: 10084 Cov.: 34 AF XY: 0.116 AC XY: 79859AN XY: 685950
GnomAD4 genome AF: 0.0908 AC: 13819AN: 152168Hom.: 827 Cov.: 32 AF XY: 0.0910 AC XY: 6771AN XY: 74376
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 20% of patients studied by a panel of primary immunodeficiencies. Number of patients: 18. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at