chr16-73449053-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000641790.1(LINC01568):n.523+28305T>C 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 0.578 in 151,976 control chromosomes in the GnomAD database, including 30,260 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
ENST00000641790.1 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 |
---|---|---|---|---|---|---|---|
ZFHX3 | NM_001386735.1 | c.-808+6950A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01568 | ENST00000641790.1 | n.523+28305T>C | intron_variant, non_coding_transcript_variant | ||||||
ZFHX3 | ENST00000641206.2 | c.-1291+6950A>G | intron_variant | P1 |
Frequencies
GnomAD3 genomes AF: 0.579 AC: 87889AN: 151858Hom.: 30262 Cov.: 31
GnomAD4 genome AF: 0.578 AC: 87887AN: 151976Hom.: 30260 Cov.: 31 AF XY: 0.576 AC XY: 42751AN XY: 74266
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at