9-127894577-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013443.5(ST6GALNAC6):c.232C>T(p.Arg78Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000291 in 1,614,086 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013443.5 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 |
---|---|---|---|---|---|---|---|
ST6GALNAC6 | NM_013443.5 | c.232C>T | p.Arg78Cys | missense_variant | 4/7 | ENST00000373146.6 | |
ST6GALNAC4-ST6GALNAC6-AK1 | NR_174625.1 | n.1108C>T | non_coding_transcript_exon_variant | 6/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ST6GALNAC6 | ENST00000373146.6 | c.232C>T | p.Arg78Cys | missense_variant | 4/7 | 1 | NM_013443.5 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000155 AC: 39AN: 251470Hom.: 0 AF XY: 0.000199 AC XY: 27AN XY: 135914
GnomAD4 exome AF: 0.000311 AC: 455AN: 1461882Hom.: 0 Cov.: 31 AF XY: 0.000320 AC XY: 233AN XY: 727244
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at