rs2934193
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000657831.1(ENSG00000287439):n.409-6897A>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 0.57 in 151,996 control chromosomes in the GnomAD database, including 31,038 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 |
---|---|---|---|---|---|---|---|
LOC124900354 | XR_001751516.3 | n.143-25187T>C | intron_variant, non_coding_transcript_variant | ||||
LOC102724553 | XR_001751520.2 | n.481-6897A>G | intron_variant, non_coding_transcript_variant | ||||
LOC124900354 | XR_001751517.2 | n.143-25187T>C | intron_variant, non_coding_transcript_variant | ||||
LOC124900354 | XR_001751518.3 | n.83-25187T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000657831.1 | n.409-6897A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000662551.1 | n.189-25187T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.571 AC: 86729AN: 151878Hom.: 31050 Cov.: 31
GnomAD4 genome AF: 0.570 AC: 86709AN: 151996Hom.: 31038 Cov.: 31 AF XY: 0.571 AC XY: 42376AN XY: 74268
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at