chr8-27599962-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001831.4(CLU):c.982G>A(p.Asp328Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0022 in 1,614,130 control chromosomes in the GnomAD database, including 43 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Synonymous variant affecting the same amino acid position (i.e. D328D) has been classified as Benign.
Frequency
Consequence
NM_001831.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLU | NM_001831.4 | c.982G>A | p.Asp328Asn | missense_variant | 7/9 | ENST00000316403.15 | |
CLU | NR_038335.2 | n.1237G>A | non_coding_transcript_exon_variant | 7/9 | |||
CLU | NR_045494.1 | n.1162G>A | non_coding_transcript_exon_variant | 7/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLU | ENST00000316403.15 | c.982G>A | p.Asp328Asn | missense_variant | 7/9 | 1 | NM_001831.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0105 AC: 1597AN: 152144Hom.: 23 Cov.: 32
GnomAD3 exomes AF: 0.00329 AC: 828AN: 251336Hom.: 12 AF XY: 0.00241 AC XY: 328AN XY: 135874
GnomAD4 exome AF: 0.00134 AC: 1961AN: 1461868Hom.: 20 Cov.: 31 AF XY: 0.00124 AC XY: 900AN XY: 727238
GnomAD4 genome ? AF: 0.0105 AC: 1597AN: 152262Hom.: 23 Cov.: 32 AF XY: 0.0104 AC XY: 775AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at