9-34691094-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006274.3(CCL19):āc.46C>Gā(p.Pro16Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000823 in 1,457,356 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (ā ).
Frequency
Consequence
NM_006274.3 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 |
---|---|---|---|---|---|---|---|
CCL19 | NM_006274.3 | c.46C>G | p.Pro16Ala | missense_variant | 1/4 | ENST00000311925.7 | |
PHF24 | XM_047423102.1 | c.48+9877G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCL19 | ENST00000311925.7 | c.46C>G | p.Pro16Ala | missense_variant | 1/4 | 1 | NM_006274.3 | P2 | |
CCL19 | ENST00000378800.3 | c.46C>G | p.Pro16Ala | missense_variant | 1/3 | 2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000537 AC: 13AN: 241932Hom.: 0 AF XY: 0.0000535 AC XY: 7AN XY: 130738
GnomAD4 exome AF: 0.00000823 AC: 12AN: 1457356Hom.: 0 Cov.: 30 AF XY: 0.00000966 AC XY: 7AN XY: 724458
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 05, 2023 | The c.46C>G (p.P16A) alteration is located in exon 1 (coding exon 1) of the CCL19 gene. This alteration results from a C to G substitution at nucleotide position 46, causing the proline (P) at amino acid position 16 to be replaced by an alanine (A). 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