rs6819724
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_037884.1(LOC100507053):n.428+18016A>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 0.0847 in 152,096 control chromosomes in the GnomAD database, including 981 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_037884.1 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 |
---|---|---|---|---|---|---|---|
LOC100507053 | NR_037884.1 | n.428+18016A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000500358.6 | n.428+18016A>G | intron_variant, non_coding_transcript_variant | 1 | ||||||
ENST00000661393.1 | n.425+18016A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000670724.1 | n.480+18016A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000691990.1 | n.446+18016A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0847 AC: 12865AN: 151978Hom.: 978 Cov.: 32
GnomAD4 genome ? AF: 0.0847 AC: 12890AN: 152096Hom.: 981 Cov.: 32 AF XY: 0.0826 AC XY: 6141AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at