rs1090502
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000642114.1(SAMMSON):n.740-9103A>G 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 0.135 in 152,214 control chromosomes in the GnomAD database, including 1,497 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
ENST00000642114.1 intron, non_coding_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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SAMMSON | ENST00000642114.1 | n.740-9103A>G | intron_variant, non_coding_transcript_variant | ||||||
SAMMSON | ENST00000641053.1 | n.162+12171A>G | intron_variant, non_coding_transcript_variant | ||||||
SAMMSON | ENST00000641222.1 | n.616-13182A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.135 AC: 20554AN: 152096Hom.: 1487 Cov.: 32
GnomAD4 genome ? AF: 0.135 AC: 20601AN: 152214Hom.: 1497 Cov.: 32 AF XY: 0.140 AC XY: 10424AN XY: 74428
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at