rs867992
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000658872.1(ENSG00000287564):n.323-5555A>T 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 0.401 in 152,124 control chromosomes in the GnomAD database, including 14,228 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
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 |
---|---|---|---|---|---|---|---|
LOC105376481 | XR_001747410.3 | n.2795-5555A>T | intron_variant, non_coding_transcript_variant | ||||
LOC105376481 | XR_001747409.3 | n.2795-5555A>T | intron_variant, non_coding_transcript_variant | ||||
LOC105376481 | XR_930796.3 | n.904-5555A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000658872.1 | n.323-5555A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.402 AC: 61046AN: 152006Hom.: 14228 Cov.: 33
GnomAD4 genome ? AF: 0.401 AC: 61052AN: 152124Hom.: 14228 Cov.: 33 AF XY: 0.406 AC XY: 30231AN XY: 74376
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at