chr1-173383558-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_037845.1(LOC100506023):n.655+78766C>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 0.345 in 152,106 control chromosomes in the GnomAD database, including 10,020 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
NR_037845.1 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 |
---|---|---|---|---|---|---|---|
LOC100506023 | NR_037845.1 | n.655+78766C>G | intron_variant, non_coding_transcript_variant | ||||
TNFSF4 | XM_047429896.1 | c.147+58361C>G | intron_variant | ||||
TNFSF4 | XM_047429902.1 | c.18+18701C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.345 AC: 52403AN: 151986Hom.: 10019 Cov.: 32
GnomAD4 genome AF: 0.345 AC: 52412AN: 152106Hom.: 10020 Cov.: 32 AF XY: 0.348 AC XY: 25896AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at