rs4916319
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_037845.1(LOC100506023):n.656-57416C>T 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 0.492 in 151,818 control chromosomes in the GnomAD database, including 19,558 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.656-57416C>T | intron_variant, non_coding_transcript_variant | ||||
TNFSF4 | XM_047429896.1 | c.148-90254C>T | intron_variant | ||||
TNFSF4 | XM_047429902.1 | c.19-90254C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.493 AC: 74730AN: 151698Hom.: 19559 Cov.: 31
GnomAD4 genome ? AF: 0.492 AC: 74734AN: 151818Hom.: 19558 Cov.: 31 AF XY: 0.492 AC XY: 36492AN XY: 74180
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at