NM_001625.4:c.*2347G>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001625.4(AK2):c.*2347G>T variant causes a 3 prime UTR change. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001625.4 3_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AK2 | NM_001625.4 | c.*2347G>T | 3_prime_UTR_variant | Exon 6 of 6 | ENST00000672715.1 | NP_001616.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 24AN: 67706Hom.: 0 Cov.: 24 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1385206Hom.: 0 Cov.: 44 AF XY: 0.00 AC XY: 0AN XY: 691756
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000354 AC: 24AN: 67824Hom.: 0 Cov.: 24 AF XY: 0.000495 AC XY: 16AN XY: 32322
ClinVar
Submissions by phenotype
not specified Uncertain: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: Gene associated with AR SCID. However, variant affects the last exon which has only one amino acid! -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at