chr1-42335634-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000436207.2(ENSG00000227527):n.452-39G>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 0.0139 in 151,916 control chromosomes in the GnomAD database, including 183 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 |
---|---|---|---|---|---|---|---|
FOXJ3 | NM_001198850.2 | c.-26G>A | 5_prime_UTR_variant | 1/13 | |||
FOXJ3 | XM_024454163.2 | c.-170G>A | 5_prime_UTR_variant | 1/14 | |||
FOXJ3 | XM_047449488.1 | c.-26G>A | 5_prime_UTR_variant | 1/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000436207.2 | n.452-39G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
FOXJ3 | ENST00000372573.5 | c.-26G>A | 5_prime_UTR_variant | 1/13 | 2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0139 AC: 2114AN: 151796Hom.: 184 Cov.: 29
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 112Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 74
GnomAD4 genome AF: 0.0139 AC: 2117AN: 151916Hom.: 183 Cov.: 29 AF XY: 0.0152 AC XY: 1132AN XY: 74244
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at