chr3-186618555-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001622.4(AHSG):c.593A>C(p.Tyr198Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,568 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001622.4 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 | UniProt |
---|---|---|---|---|---|---|---|
AHSG | NM_001622.4 | c.593A>C | p.Tyr198Ser | missense_variant | 5/7 | ENST00000411641.7 | |
AHSG | NM_001354571.2 | c.596A>C | p.Tyr199Ser | missense_variant | 5/7 | ||
AHSG | NM_001354572.2 | c.590A>C | p.Tyr197Ser | missense_variant | 5/7 | ||
AHSG | NM_001354573.2 | c.593A>C | p.Tyr198Ser | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AHSG | ENST00000411641.7 | c.593A>C | p.Tyr198Ser | missense_variant | 5/7 | 1 | NM_001622.4 | P3 | |
HRG-AS1 | ENST00000630178.2 | n.239-38589T>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000395 AC: 6AN: 152060Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251442Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135886
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461508Hom.: 0 Cov.: 30 AF XY: 0.00000963 AC XY: 7AN XY: 727034
GnomAD4 genome ? AF: 0.0000395 AC: 6AN: 152060Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74276
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 19, 2023 | The c.593A>C (p.Y198S) alteration is located in exon 5 (coding exon 5) of the AHSG gene. This alteration results from a A to C substitution at nucleotide position 593, causing the tyrosine (Y) at amino acid position 198 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