6-1535763-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_427861.4(LOC102723944):n.234+16583T>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 0.424 in 151,848 control chromosomes in the GnomAD database, including 15,936 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
XR_427861.4 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 |
---|---|---|---|---|---|---|---|
LOC102723944 | XR_427861.4 | n.234+16583T>C | intron_variant, non_coding_transcript_variant | ||||
LOC102723944 | XR_001743921.2 | n.295-6608T>C | intron_variant, non_coding_transcript_variant | ||||
LOC102723944 | XR_926382.2 | n.295-6584T>C | intron_variant, non_coding_transcript_variant | ||||
LOC102723944 | XR_926384.2 | n.260-6584T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.424 AC: 64301AN: 151730Hom.: 15907 Cov.: 30
GnomAD4 genome AF: 0.424 AC: 64374AN: 151848Hom.: 15936 Cov.: 30 AF XY: 0.421 AC XY: 31248AN XY: 74208
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at