chr17-34319542-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_005623.3(CCL8):c.41C>T(p.Ala14Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00126 in 1,613,840 control chromosomes in the GnomAD database, including 22 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 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.
Frequency
Consequence
NM_005623.3 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 |
---|---|---|---|---|---|---|---|
CCL8 | NM_005623.3 | c.41C>T | p.Ala14Val | missense_variant | 1/3 | ENST00000394620.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCL8 | ENST00000394620.2 | c.41C>T | p.Ala14Val | missense_variant | 1/3 | 1 | NM_005623.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00690 AC: 1050AN: 152214Hom.: 12 Cov.: 32
GnomAD3 exomes AF: 0.00168 AC: 421AN: 250616Hom.: 5 AF XY: 0.00123 AC XY: 167AN XY: 135406
GnomAD4 exome AF: 0.000672 AC: 982AN: 1461508Hom.: 10 Cov.: 30 AF XY: 0.000583 AC XY: 424AN XY: 727072
GnomAD4 genome AF: 0.00694 AC: 1057AN: 152332Hom.: 12 Cov.: 32 AF XY: 0.00670 AC XY: 499AN XY: 74496
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 29, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at