2-74527313-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_181575.5(AUP1):c.1012G>A(p.Val338Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000191 in 1,614,000 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_181575.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AUP1 | NM_181575.5 | c.1012G>A | p.Val338Ile | missense_variant | Exon 10 of 12 | ENST00000377526.4 | NP_853553.1 | |
AUP1 | NR_126510.2 | n.1089G>A | non_coding_transcript_exon_variant | Exon 10 of 12 | ||||
AUP1 | NR_126511.2 | n.1285G>A | non_coding_transcript_exon_variant | Exon 9 of 11 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000641 AC: 16AN: 249482Hom.: 0 AF XY: 0.0000813 AC XY: 11AN XY: 135362
GnomAD4 exome AF: 0.000200 AC: 293AN: 1461868Hom.: 0 Cov.: 32 AF XY: 0.000190 AC XY: 138AN XY: 727232
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1012G>A (p.V338I) alteration is located in exon 10 (coding exon 10) of the AUP1 gene. This alteration results from a G to A substitution at nucleotide position 1012, causing the valine (V) at amino acid position 338 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at