4-104716137-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000515127.1(ENSG00000248242):n.407+30503G>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 0.673 in 151,748 control chromosomes in the GnomAD database, including 37,164 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000515127.1 | n.407+30503G>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
CXXC4-AS1 | ENST00000655215.1 | n.213-11446C>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.673 AC: 102021AN: 151630Hom.: 37149 Cov.: 31
GnomAD4 genome AF: 0.673 AC: 102075AN: 151748Hom.: 37164 Cov.: 31 AF XY: 0.679 AC XY: 50319AN XY: 74154
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at