chr17-76624741-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000701062.1(SNHG16):n.282+10736T>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.371 in 152,958 control chromosomes in the GnomAD database, including 13,081 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000701062.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ST6GALNAC1 | NM_018414.5 | downstream_gene_variant | ENST00000156626.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SNHG16 | ENST00000701062.1 | n.282+10736T>G | intron_variant, non_coding_transcript_variant | ||||||
ST6GALNAC1 | ENST00000156626.12 | downstream_gene_variant | 1 | NM_018414.5 | P1 | ||||
ST6GALNAC1 | ENST00000359088.9 | downstream_gene_variant | 1 | ||||||
ST6GALNAC1 | ENST00000592042.5 | downstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.370 AC: 56321AN: 152078Hom.: 12987 Cov.: 32
GnomAD4 exome AF: 0.459 AC: 349AN: 760Hom.: 89 Cov.: 0 AF XY: 0.463 AC XY: 187AN XY: 404
GnomAD4 genome AF: 0.370 AC: 56343AN: 152198Hom.: 12992 Cov.: 32 AF XY: 0.371 AC XY: 27605AN XY: 74418
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at