chr3-57276588-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001142733.3(ASB14):c.1726G>A(p.Asp576Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000149 in 1,613,122 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 (★).
Frequency
Consequence
NM_001142733.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASB14 | ENST00000487349.6 | c.1726G>A | p.Asp576Asn | missense_variant | Exon 10 of 11 | 1 | NM_001142733.3 | ENSP00000419199.1 | ||
ASB14 | ENST00000515033.1 | n.871G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 1 | |||||
ASB14 | ENST00000389601.3 | c.1726G>A | p.Asp576Asn | missense_variant | Exon 11 of 12 | 5 | ||||
APPL1 | ENST00000650354.1 | n.*220+129C>T | intron_variant | Intron 23 of 23 | ENSP00000498115.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152022Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250850Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135580
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1460982Hom.: 0 Cov.: 30 AF XY: 0.0000138 AC XY: 10AN XY: 726804
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152140Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1726G>A (p.D576N) alteration is located in exon 10 (coding exon 9) of the ASB14 gene. This alteration results from a G to A substitution at nucleotide position 1726, causing the aspartic acid (D) at amino acid position 576 to be replaced by an asparagine (N). 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