rs6527664
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000435789.1(MAGEB17-AS1):n.710+1319T>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 0.427 in 110,439 control chromosomes in the GnomAD database, including 8,334 homozygotes. There are 13,169 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
ENST00000435789.1 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 |
---|---|---|---|---|---|---|---|
LOC128966703 | XR_008485585.1 | n.1623+1319T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAGEB17-AS1 | ENST00000435789.1 | n.710+1319T>C | intron_variant, non_coding_transcript_variant | 5 | |||||
MAGEB17-AS1 | ENST00000422438.5 | n.77+1319T>C | intron_variant, non_coding_transcript_variant | 3 | |||||
MAGEB17-AS1 | ENST00000454712.7 | n.547+1319T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.426 AC: 47076AN: 110385Hom.: 8331 Cov.: 22 AF XY: 0.401 AC XY: 13123AN XY: 32703
GnomAD4 genome ? AF: 0.427 AC: 47121AN: 110439Hom.: 8334 Cov.: 22 AF XY: 0.402 AC XY: 13169AN XY: 32767
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at