chr12-57621711-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000474359.7(ENSG00000287908):n.*887G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.391 in 1,600,702 control chromosomes in the GnomAD database, including 128,355 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
ENST00000474359.7 non_coding_transcript_exon
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC101927583 | NR_120450.1 | n.193C>T | non_coding_transcript_exon_variant | Exon 1 of 4 | ||||
SLC26A10P | NR_166678.1 | n.1271G>A | non_coding_transcript_exon_variant | Exon 4 of 14 | ||||
SLC26A10P | NR_166679.1 | n.1271G>A | non_coding_transcript_exon_variant | Exon 4 of 16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000287908 | ENST00000474359.7 | n.*887G>A | non_coding_transcript_exon_variant | Exon 12 of 23 | 5 | ENSP00000431994.2 | ||||
ENSG00000287908 | ENST00000474359.7 | n.*887G>A | 3_prime_UTR_variant | Exon 12 of 23 | 5 | ENSP00000431994.2 |
Frequencies
GnomAD3 genomes AF: 0.335 AC: 50999AN: 152034Hom.: 9666 Cov.: 33
GnomAD3 exomes AF: 0.346 AC: 77879AN: 224952Hom.: 14642 AF XY: 0.352 AC XY: 43205AN XY: 122826
GnomAD4 exome AF: 0.397 AC: 574607AN: 1448550Hom.: 118695 Cov.: 50 AF XY: 0.395 AC XY: 283864AN XY: 719088
GnomAD4 genome AF: 0.335 AC: 50994AN: 152152Hom.: 9660 Cov.: 33 AF XY: 0.330 AC XY: 24548AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at