2-76267835-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000654219.1(ENSG00000287172):n.84-73718T>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 0.957 in 151,600 control chromosomes in the GnomAD database, including 69,445 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 | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000654219.1 | n.84-73718T>C | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000668214.1 | n.56-73718T>C | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000669228.1 | n.84-73718T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.957 AC: 144967AN: 151484Hom.: 69402 Cov.: 27
GnomAD4 genome AF: 0.957 AC: 145068AN: 151600Hom.: 69445 Cov.: 27 AF XY: 0.957 AC XY: 70844AN XY: 74040
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at