2-175324679-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000438963.2(ENSG00000229066):n.247+67091G>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 0.183 in 152,198 control chromosomes in the GnomAD database, including 2,686 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000438963.2 | n.247+67091G>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000444567.1 | n.448+33178G>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000653625.1 | n.336+33178G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.183 AC: 27851AN: 152080Hom.: 2671 Cov.: 32
GnomAD4 genome AF: 0.183 AC: 27906AN: 152198Hom.: 2686 Cov.: 32 AF XY: 0.186 AC XY: 13838AN XY: 74412
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at