chr17-13600765-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006042.3(HS3ST3A1):āc.365G>Cā(p.Gly122Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000369 in 1,353,402 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006042.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HS3ST3A1 | NM_006042.3 | c.365G>C | p.Gly122Ala | missense_variant | 1/2 | ENST00000284110.2 | NP_006033.1 | |
HS3ST3A1 | XM_017025480.3 | c.365G>C | p.Gly122Ala | missense_variant | 1/2 | XP_016880969.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HS3ST3A1 | ENST00000284110.2 | c.365G>C | p.Gly122Ala | missense_variant | 1/2 | 1 | NM_006042.3 | ENSP00000284110.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000202 AC: 2AN: 98964Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 55494
GnomAD4 exome AF: 0.00000369 AC: 5AN: 1353402Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 666464
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 10, 2023 | The c.365G>C (p.G122A) alteration is located in exon 1 (coding exon 1) of the HS3ST3A1 gene. This alteration results from a G to C substitution at nucleotide position 365, causing the glycine (G) at amino acid position 122 to be replaced by an alanine (A). 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