7-117427397-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_130768.3(ASZ1):c.64G>C(p.Asp22His) variant causes a missense change. The variant allele was found at a frequency of 0.0000149 in 1,614,104 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D22Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_130768.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASZ1 | NM_130768.3 | c.64G>C | p.Asp22His | missense_variant | 1/13 | ENST00000284629.7 | |
ASZ1 | NM_001301821.2 | c.64G>C | p.Asp22His | missense_variant | 1/13 | ||
ASZ1 | NM_001301822.2 | c.-449G>C | 5_prime_UTR_variant | 1/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASZ1 | ENST00000284629.7 | c.64G>C | p.Asp22His | missense_variant | 1/13 | 1 | NM_130768.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152262Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250796Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135680
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461842Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 727222
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152262Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74396
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 28, 2022 | The c.64G>C (p.D22H) alteration is located in exon 1 (coding exon 1) of the ASZ1 gene. This alteration results from a G to C substitution at nucleotide position 64, causing the aspartic acid (D) at amino acid position 22 to be replaced by a histidine (H). 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