rs6625978
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000498736.3(RN7SL388P):n.108C>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 0.424 in 109,338 control chromosomes in the GnomAD database, including 8,964 homozygotes. There are 13,324 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
ENST00000498736.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PIN4 | NM_001170747.1 | c.312+1915C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RN7SL388P | ENST00000498736.3 | n.108C>A | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.424 AC: 46341AN: 109237Hom.: 8966 Cov.: 21 AF XY: 0.421 AC XY: 13280AN XY: 31581
GnomAD4 exome AF: 0.216 AC: 11AN: 51Hom.: 0 Cov.: 0 AF XY: 0.421 AC XY: 8AN XY: 19
GnomAD4 genome ? AF: 0.424 AC: 46382AN: 109287Hom.: 8964 Cov.: 21 AF XY: 0.421 AC XY: 13316AN XY: 31641
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at