chr11-69362279-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000544781.5(ENSG00000260877):n.325-4464T>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 0.471 in 152,012 control chromosomes in the GnomAD database, including 17,353 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 |
---|---|---|---|---|---|---|---|
LOC105369370 | XR_950269.4 | n.467-4464T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000544781.5 | n.325-4464T>C | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000540356.1 | n.124-4464T>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000541137.5 | n.247-4464T>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000561588.3 | n.170-9124T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.471 AC: 71473AN: 151892Hom.: 17293 Cov.: 32
GnomAD4 genome AF: 0.471 AC: 71604AN: 152012Hom.: 17353 Cov.: 32 AF XY: 0.475 AC XY: 35264AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at