3-39281672-A-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001171174.1(CX3CR1):c.24T>A(p.Phe8Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,446,464 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/17 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
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CX3CR1 | NM_001171174.1 | c.24T>A | p.Phe8Leu | missense_variant | 1/2 | ||
CX3CR1 | XM_047447538.1 | c.-10+11120T>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CX3CR1 | ENST00000358309.3 | c.24T>A | p.Phe8Leu | missense_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1446464Hom.: 0 Cov.: 37 AF XY: 0.00000278 AC XY: 2AN XY: 719856
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at