chr8-27606346-C-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001831.4(CLU):c.417+8G>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000093 in 1,613,764 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001831.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLU | NM_001831.4 | c.417+8G>C | splice_region_variant, intron_variant | ENST00000316403.15 | |||
CLU | NR_038335.2 | n.672+8G>C | splice_region_variant, intron_variant, non_coding_transcript_variant | ||||
CLU | NR_045494.1 | n.597+8G>C | splice_region_variant, intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLU | ENST00000316403.15 | c.417+8G>C | splice_region_variant, intron_variant | 1 | NM_001831.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000328 AC: 5AN: 152262Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000546 AC: 137AN: 250796Hom.: 0 AF XY: 0.000347 AC XY: 47AN XY: 135638
GnomAD4 exome AF: 0.0000992 AC: 145AN: 1461502Hom.: 1 Cov.: 32 AF XY: 0.0000743 AC XY: 54AN XY: 727072
GnomAD4 genome ? AF: 0.0000328 AC: 5AN: 152262Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74388
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 10, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at