chr2-75199777-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_168009.1(LOC105374811):n.372+43462G>C 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 0.0615 in 152,430 control chromosomes in the GnomAD database, including 333 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_168009.1 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 |
---|---|---|---|---|---|---|---|
LOC105374811 | NR_168009.1 | n.372+43462G>C | intron_variant, non_coding_transcript_variant | ||||
LOC105374811 | NR_168010.1 | n.366+43462G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.0615 AC: 9363AN: 152184Hom.: 334 Cov.: 33
GnomAD4 exome AF: 0.0625 AC: 8AN: 128Hom.: 0 AF XY: 0.0732 AC XY: 6AN XY: 82
GnomAD4 genome AF: 0.0615 AC: 9367AN: 152302Hom.: 333 Cov.: 33 AF XY: 0.0592 AC XY: 4408AN XY: 74484
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at