rs7949181
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_948042.3(LOC105369506):n.87-11944A>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 0.276 in 152,094 control chromosomes in the GnomAD database, including 5,960 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
XR_948042.3 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 |
---|---|---|---|---|---|---|---|
LOC105369506 | XR_948042.3 | n.87-11944A>G | intron_variant, non_coding_transcript_variant | ||||
NXPE2 | XM_017017211.2 | c.1145-10392T>C | intron_variant | ||||
NXPE2 | XM_017017212.2 | c.1145-10392T>C | intron_variant | ||||
NXPE2 | XR_001747769.2 | n.1278-10392T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.276 AC: 41942AN: 151976Hom.: 5933 Cov.: 32
GnomAD4 genome ? AF: 0.276 AC: 42021AN: 152094Hom.: 5960 Cov.: 32 AF XY: 0.281 AC XY: 20882AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at