rs6543610
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000464038.5(GALNT14):n.199+59C>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 0.972 in 152,332 control chromosomes in the GnomAD database, including 72,052 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
ENST00000464038.5 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC107985861 | XR_001739384.1 | n.1390+59C>G | intron_variant, non_coding_transcript_variant | ||||
LOC107985861 | XR_001739383.1 | n.1442+59C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GALNT14 | ENST00000464038.5 | n.199+59C>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.972 AC: 147913AN: 152210Hom.: 72010 Cov.: 32
GnomAD4 exome AF: 1.00 AC: 4AN: 4Hom.: 2 AF XY: 1.00 AC XY: 2AN XY: 2
GnomAD4 genome AF: 0.972 AC: 148013AN: 152328Hom.: 72050 Cov.: 32 AF XY: 0.972 AC XY: 72431AN XY: 74486
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at