chr2-232456193-C-G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_001631.5(ALPI):c.-7C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0037 in 1,613,180 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001631.5 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALPI | NM_001631.5 | c.-7C>G | 5_prime_UTR_variant | Exon 1 of 11 | ENST00000295463.4 | NP_001622.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ALPI | ENST00000295463 | c.-7C>G | 5_prime_UTR_variant | Exon 1 of 11 | 1 | NM_001631.5 | ENSP00000295463.3 | |||
ALPI | ENST00000457560.1 | n.-7C>G | non_coding_transcript_exon_variant | Exon 1 of 10 | 5 | ENSP00000413068.1 | ||||
ALPI | ENST00000457560.1 | n.-7C>G | 5_prime_UTR_variant | Exon 1 of 10 | 5 | ENSP00000413068.1 |
Frequencies
GnomAD3 genomes AF: 0.00256 AC: 389AN: 152192Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00251 AC: 628AN: 250492Hom.: 3 AF XY: 0.00265 AC XY: 359AN XY: 135522
GnomAD4 exome AF: 0.00382 AC: 5574AN: 1460870Hom.: 17 Cov.: 33 AF XY: 0.00378 AC XY: 2745AN XY: 726758
GnomAD4 genome AF: 0.00255 AC: 389AN: 152310Hom.: 3 Cov.: 32 AF XY: 0.00232 AC XY: 173AN XY: 74466
ClinVar
Submissions by phenotype
ALPI-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at