rs7668883
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000659878.1(ENSG00000251095):n.479+9941A>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 0.163 in 152,184 control chromosomes in the GnomAD database, including 4,860 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105377329 | XR_007058469.1 | n.301+9941A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105377329 | XR_007058467.1 | n.301+9941A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105377329 | XR_007058468.1 | n.301+9941A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000659878.1 | n.479+9941A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000673949.1 | n.306-11177T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.163 AC: 24714AN: 152066Hom.: 4839 Cov.: 32
GnomAD4 genome ? AF: 0.163 AC: 24772AN: 152184Hom.: 4860 Cov.: 32 AF XY: 0.159 AC XY: 11834AN XY: 74418
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at