rs17183491
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000657340.1(ENSG00000259669):n.1478-4027A>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 0.171 in 152,140 control chromosomes in the GnomAD database, including 3,247 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
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 |
---|---|---|---|---|---|---|---|
UNC13C | XM_017022220.2 | c.-257+41564T>C | intron_variant | ||||
UNC13C | XM_017022221.2 | c.-257+41564T>C | intron_variant | ||||
UNC13C | XM_017022222.2 | c.-256-52790T>C | intron_variant | ||||
UNC13C | XM_047432538.1 | c.-257+41564T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000657340.1 | n.1478-4027A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.171 AC: 25962AN: 152022Hom.: 3247 Cov.: 32
GnomAD4 genome ? AF: 0.171 AC: 25987AN: 152140Hom.: 3247 Cov.: 32 AF XY: 0.176 AC XY: 13060AN XY: 74380
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at