rs6625761
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000664514.3(ENSG00000228427):n.331+6186C>T 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 0.485 in 110,203 control chromosomes in the GnomAD database, including 9,726 homozygotes. There are 15,797 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
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 |
---|---|---|---|---|---|---|---|
LOC107985688 | XR_001755878.2 | n.285+6186C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664514.3 | n.331+6186C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000450860.1 | n.267+6186C>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000652147.2 | n.321+6186C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.485 AC: 53422AN: 110151Hom.: 9719 Cov.: 22 AF XY: 0.486 AC XY: 15759AN XY: 32447
GnomAD4 genome ? AF: 0.485 AC: 53467AN: 110203Hom.: 9726 Cov.: 22 AF XY: 0.486 AC XY: 15797AN XY: 32509
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at