rs923644
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000664306.2(STS):c.*83+56895G>A variant causes a intron, NMD transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0401 in 110,399 control chromosomes in the GnomAD database, including 180 homozygotes. There are 1,233 hemizygotes in GnomAD. 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
ENST00000664306.2 intron, NMD_transcript
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 |
---|---|---|---|---|---|---|---|---|---|
STS | ENST00000664306.2 | c.*83+56895G>A | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0400 AC: 4412AN: 110343Hom.: 176 Cov.: 22 AF XY: 0.0377 AC XY: 1230AN XY: 32593
GnomAD4 genome AF: 0.0401 AC: 4424AN: 110399Hom.: 180 Cov.: 22 AF XY: 0.0378 AC XY: 1233AN XY: 32659
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at