6-31571991-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_149045.1(LOC100287329):n.121+592T>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 0.687 in 154,080 control chromosomes in the GnomAD database, including 36,601 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_149045.1 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 |
---|---|---|---|---|---|---|---|
LOC100287329 | NR_149045.1 | n.121+592T>C | intron_variant, non_coding_transcript_variant | ||||
LTA | XM_047418773.1 | c.-177-144A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000691266.1 | n.118+592T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.687 AC: 104168AN: 151622Hom.: 36007 Cov.: 30
GnomAD4 exome AF: 0.688 AC: 1610AN: 2340Hom.: 551 AF XY: 0.695 AC XY: 955AN XY: 1374
GnomAD4 genome AF: 0.687 AC: 104266AN: 151740Hom.: 36050 Cov.: 30 AF XY: 0.692 AC XY: 51316AN XY: 74136
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at