rs197383
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_125963.1(LOC101928718):n.379+2688A>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 0.149 in 152,220 control chromosomes in the GnomAD database, including 2,109 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_125963.1 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 |
---|---|---|---|---|---|---|---|
LOC101928718 | NR_125963.1 | n.379+2688A>G | intron_variant, non_coding_transcript_variant | ||||
INKA2 | NM_198926.2 | c.12+5291A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000412270.1 | n.379+2688A>G | intron_variant, non_coding_transcript_variant | 1 | ||||||
INKA2 | ENST00000444059.2 | n.124+5291A>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.149 AC: 22716AN: 152102Hom.: 2113 Cov.: 33
GnomAD4 genome ? AF: 0.149 AC: 22735AN: 152220Hom.: 2109 Cov.: 33 AF XY: 0.146 AC XY: 10875AN XY: 74424
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at