rs180156
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The ENST00000435112.5(ENSG00000230258):n.307-3799C>A 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 0.828 in 152,192 control chromosomes in the GnomAD database, including 52,251 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 -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC112267896 | XR_001752989.3 | n.88-3799C>A | intron_variant, non_coding_transcript_variant | |||||
LOC105371881 | XR_934952.3 | n.1583-29159C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000435112.5 | n.307-3799C>A | intron_variant, non_coding_transcript_variant | 3 | |||||||
ENST00000587325.1 | n.319-3799C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.828 AC: 125955AN: 152074Hom.: 52224 Cov.: 33
GnomAD4 genome AF: 0.828 AC: 126029AN: 152192Hom.: 52251 Cov.: 33 AF XY: 0.831 AC XY: 61871AN XY: 74422
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at