17-35880776-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000605548.1(ENSG00000270240):n.153-3606C>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 0.26 in 163,666 control chromosomes in the GnomAD database, including 6,602 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 |
---|---|---|---|---|---|---|---|
LOC105371745 | XR_007065724.1 | n.148-3606C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105371745 | XR_934699.2 | n.148-3606C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000605548.1 | n.153-3606C>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
CCL5 | ENST00000605509.2 | c.-65G>A | 5_prime_UTR_variant | 1/4 | 3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.265 AC: 40212AN: 151968Hom.: 6290 Cov.: 32
GnomAD4 exome AF: 0.191 AC: 2210AN: 11580Hom.: 277 Cov.: 0 AF XY: 0.192 AC XY: 1129AN XY: 5884
GnomAD4 genome ? AF: 0.265 AC: 40309AN: 152086Hom.: 6325 Cov.: 32 AF XY: 0.265 AC XY: 19740AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at