8-11770112-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_145043.4(NEIL2):c.-226G>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 151,858 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_145043.4 5_prime_UTR_premature_start_codon_gain
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NEIL2 | NM_145043.4 | c.-226G>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 5 | ENST00000284503.7 | NP_659480.1 | ||
NEIL2 | NM_145043.4 | c.-226G>T | 5_prime_UTR_variant | Exon 1 of 5 | ENST00000284503.7 | NP_659480.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NEIL2 | ENST00000284503 | c.-226G>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 5 | 2 | NM_145043.4 | ENSP00000284503.6 | |||
NEIL2 | ENST00000284503 | c.-226G>T | 5_prime_UTR_variant | Exon 1 of 5 | 2 | NM_145043.4 | ENSP00000284503.6 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151858Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 40Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 30
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151858Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74128
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at