9-34662626-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006664.4(CCL27):c.8G>A(p.Gly3Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00025 in 1,612,236 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006664.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCL27 | NM_006664.4 | c.8G>A | p.Gly3Glu | missense_variant | 1/3 | ENST00000259631.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCL27 | ENST00000259631.5 | c.8G>A | p.Gly3Glu | missense_variant | 1/3 | 1 | NM_006664.4 | P1 | |
CCL27 | ENST00000557161.1 | n.547-210G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000177 AC: 27AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000325 AC: 81AN: 248948Hom.: 0 AF XY: 0.000409 AC XY: 55AN XY: 134596
GnomAD4 exome AF: 0.000258 AC: 376AN: 1459980Hom.: 1 Cov.: 32 AF XY: 0.000274 AC XY: 199AN XY: 726300
GnomAD4 genome ? AF: 0.000177 AC: 27AN: 152256Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74436
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 23, 2021 | The c.8G>A (p.G3E) alteration is located in exon 1 (coding exon 1) of the CCL27 gene. This alteration results from a G to A substitution at nucleotide position 8, causing the glycine (G) at amino acid position 3 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at