rs11715522
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001171174.1(CX3CR1):āc.24T>Gā(p.Phe8Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.393 in 1,596,944 control chromosomes in the GnomAD database, including 127,985 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001171174.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CX3CR1 | NM_001171174.1 | c.24T>G | p.Phe8Leu | missense_variant | 1/2 | ||
CX3CR1 | XM_047447538.1 | c.-10+11120T>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CX3CR1 | ENST00000358309.3 | c.24T>G | p.Phe8Leu | missense_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.363 AC: 54990AN: 151670Hom.: 10837 Cov.: 30
GnomAD3 exomes AF: 0.421 AC: 97940AN: 232732Hom.: 21828 AF XY: 0.420 AC XY: 53540AN XY: 127374
GnomAD4 exome AF: 0.397 AC: 573056AN: 1445156Hom.: 117150 Cov.: 37 AF XY: 0.398 AC XY: 286174AN XY: 719292
GnomAD4 genome ? AF: 0.362 AC: 55001AN: 151788Hom.: 10835 Cov.: 30 AF XY: 0.369 AC XY: 27398AN XY: 74170
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at