chr10-73291411-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_001367801.1(CFAP70):c.2264G>A(p.Arg755Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00214 in 1,614,066 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001367801.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CFAP70 | NM_001367801.1 | c.2264G>A | p.Arg755Gln | missense_variant | Exon 20 of 28 | ENST00000355577.9 | NP_001354730.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CFAP70 | ENST00000355577.9 | c.2264G>A | p.Arg755Gln | missense_variant | Exon 20 of 28 | 5 | NM_001367801.1 | ENSP00000347781.4 |
Frequencies
GnomAD3 genomes AF: 0.00112 AC: 171AN: 152090Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00102 AC: 256AN: 251424Hom.: 0 AF XY: 0.000935 AC XY: 127AN XY: 135884
GnomAD4 exome AF: 0.00225 AC: 3290AN: 1461858Hom.: 3 Cov.: 31 AF XY: 0.00212 AC XY: 1539AN XY: 727238
GnomAD4 genome AF: 0.00112 AC: 171AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.00120 AC XY: 89AN XY: 74406
ClinVar
Submissions by phenotype
CFAP70-related condition Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at