8-81680752-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005536.4(IMPA1):āc.95A>Gā(p.Asn32Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000249 in 1,608,712 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005536.4 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IMPA1 | NM_005536.4 | c.95A>G | p.Asn32Ser | missense_variant | 3/9 | ENST00000256108.10 | NP_005527.1 | |
IMPA1 | NM_001144878.2 | c.272A>G | p.Asn91Ser | missense_variant | 4/10 | NP_001138350.1 | ||
IMPA1 | NM_001144879.2 | c.95A>G | p.Asn32Ser | missense_variant | 3/8 | NP_001138351.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IMPA1 | ENST00000256108.10 | c.95A>G | p.Asn32Ser | missense_variant | 3/9 | 1 | NM_005536.4 | ENSP00000256108 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250100Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135170
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1456390Hom.: 0 Cov.: 28 AF XY: 0.00000138 AC XY: 1AN XY: 724792
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74498
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 16, 2024 | The c.272A>G (p.N91S) alteration is located in exon 4 (coding exon 3) of the IMPA1 gene. This alteration results from a A to G substitution at nucleotide position 272, causing the asparagine (N) at amino acid position 91 to be replaced by a serine (S). 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