11-34916337-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_015957.4(APIP):c.-53C>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 0.364 in 1,599,314 control chromosomes in the GnomAD database, including 110,744 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_015957.4 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
APIP | ENST00000395787.4 | c.-53C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 7 | 1 | NM_015957.4 | ENSP00000379133.3 | |||
APIP | ENST00000395787.4 | c.-53C>T | 5_prime_UTR_variant | Exon 1 of 7 | 1 | NM_015957.4 | ENSP00000379133.3 |
Frequencies
GnomAD3 genomes AF: 0.354 AC: 53857AN: 152156Hom.: 10163 Cov.: 36
GnomAD3 exomes AF: 0.413 AC: 87642AN: 212210Hom.: 19222 AF XY: 0.414 AC XY: 48209AN XY: 116506
GnomAD4 exome AF: 0.365 AC: 527647AN: 1447042Hom.: 100591 Cov.: 48 AF XY: 0.368 AC XY: 264145AN XY: 718580
GnomAD4 genome AF: 0.354 AC: 53844AN: 152272Hom.: 10153 Cov.: 36 AF XY: 0.364 AC XY: 27121AN XY: 74456
ClinVar
Submissions by phenotype
not provided Benign:2
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Pyruvate dehydrogenase E3-binding protein deficiency Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at