rs2977070
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000668834.1(ENSG00000253983):n.355-7186C>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 0.275 in 152,128 control chromosomes in the GnomAD database, including 5,827 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 |
---|---|---|---|---|---|---|---|
LOC105375903 | XR_001745956.1 | n.151+1003C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375903 | XR_929052.2 | n.151+1003C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375903 | XR_929053.2 | n.126+1028C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000668834.1 | n.355-7186C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000522339.2 | n.137+1003C>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000670556.1 | n.303-7186C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.275 AC: 41741AN: 152010Hom.: 5809 Cov.: 33
GnomAD4 genome ? AF: 0.275 AC: 41812AN: 152128Hom.: 5827 Cov.: 33 AF XY: 0.272 AC XY: 20240AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at