6-14636732-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000702111.1(ENSG00000289958):n.156+7219A>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 0.747 in 152,180 control chromosomes in the GnomAD database, including 47,369 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 |
---|---|---|---|---|---|---|---|
LOC101928354 | XR_241980.4 | n.165+7219A>G | intron_variant, non_coding_transcript_variant | ||||
LOC101928354 | XR_001743992.2 | n.303+5430A>G | intron_variant, non_coding_transcript_variant | ||||
LOC101928354 | XR_007059472.1 | n.225+7219A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000702111.1 | n.156+7219A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.747 AC: 113617AN: 152062Hom.: 47372 Cov.: 32
GnomAD4 genome ? AF: 0.747 AC: 113639AN: 152180Hom.: 47369 Cov.: 32 AF XY: 0.751 AC XY: 55910AN XY: 74414
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at