rs7182413
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_125738.1(NR2F2-AS1):n.317+16392G>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 0.633 in 152,072 control chromosomes in the GnomAD database, including 31,254 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_125738.1 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 |
---|---|---|---|---|---|---|---|
NR2F2-AS1 | NR_125738.1 | n.317+16392G>T | intron_variant, non_coding_transcript_variant | ||||
LOC124903584 | XR_007064801.1 | n.8852-745C>A | intron_variant, non_coding_transcript_variant | ||||
NR2F2-AS1 | NR_102743.1 | n.702-2440G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NR2F2-AS1 | ENST00000560800.5 | n.220+16392G>T | intron_variant, non_coding_transcript_variant | 4 | |||||
ENST00000619812.1 | n.454+22033C>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.633 AC: 96138AN: 151954Hom.: 31235 Cov.: 33
GnomAD4 genome ? AF: 0.633 AC: 96212AN: 152072Hom.: 31254 Cov.: 33 AF XY: 0.635 AC XY: 47217AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at