9-34662078-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006664.4(CCL27):c.205C>T(p.Leu69Phe) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000265 in 1,614,056 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (★).
Frequency
Consequence
NM_006664.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCL27 | NM_006664.4 | c.205C>T | p.Leu69Phe | missense_variant, splice_region_variant | 3/3 | ENST00000259631.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCL27 | ENST00000259631.5 | c.205C>T | p.Leu69Phe | missense_variant, splice_region_variant | 3/3 | 1 | NM_006664.4 | P1 | |
CCL27 | ENST00000557161.1 | n.681C>T | splice_region_variant, non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000171 AC: 26AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000155 AC: 39AN: 251454Hom.: 0 AF XY: 0.000132 AC XY: 18AN XY: 135896
GnomAD4 exome AF: 0.000275 AC: 402AN: 1461848Hom.: 0 Cov.: 32 AF XY: 0.000248 AC XY: 180AN XY: 727228
GnomAD4 genome ? AF: 0.000171 AC: 26AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 24, 2022 | The c.205C>T (p.L69F) alteration is located in exon 3 (coding exon 3) of the CCL27 gene. This alteration results from a C to T substitution at nucleotide position 205, causing the leucine (L) at amino acid position 69 to be replaced by a phenylalanine (F). 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