chr21-27372037-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000420186.2(ENSG00000231236):n.332-10881T>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 0.464 in 151,940 control chromosomes in the GnomAD database, including 18,368 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000420186.2 | n.332-10881T>C | intron_variant, non_coding_transcript_variant | 1 | ||||||
ENST00000447384.1 | n.391+9224A>G | intron_variant, non_coding_transcript_variant | 1 | ||||||
ENST00000666822.1 | n.399+9224A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000656258.1 | n.434+9224A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.464 AC: 70504AN: 151822Hom.: 18350 Cov.: 32
GnomAD4 genome AF: 0.464 AC: 70538AN: 151940Hom.: 18368 Cov.: 32 AF XY: 0.458 AC XY: 34040AN XY: 74248
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at