rs171610
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000509057.1(ENSG00000250481):n.228+6557A>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 0.136 in 152,166 control chromosomes in the GnomAD database, including 1,713 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000509057.1 | n.228+6557A>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
LINC01020 | ENST00000659550.1 | n.204+27080T>C | intron_variant, non_coding_transcript_variant | ||||||
ENST00000667766.1 | n.201+6557A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.136 AC: 20731AN: 152048Hom.: 1702 Cov.: 32
GnomAD4 genome ? AF: 0.136 AC: 20766AN: 152166Hom.: 1713 Cov.: 32 AF XY: 0.131 AC XY: 9775AN XY: 74402
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at