3-113416594-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001164496.2(CFAP44):c.604G>A(p.Glu202Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000558 in 1,611,844 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001164496.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CFAP44 | ENST00000393845.9 | c.604G>A | p.Glu202Lys | missense_variant | Exon 6 of 35 | 5 | NM_001164496.2 | ENSP00000377428.2 | ||
ENSG00000285943 | ENST00000649772.1 | n.*922G>A | non_coding_transcript_exon_variant | Exon 25 of 39 | ENSP00000497606.1 | |||||
ENSG00000285943 | ENST00000649772.1 | n.*922G>A | 3_prime_UTR_variant | Exon 25 of 39 | ENSP00000497606.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152046Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250196Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135236
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1459798Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726206
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152046Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74258
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.604G>A (p.E202K) alteration is located in exon 6 (coding exon 5) of the CFAP44 gene. This alteration results from a G to A substitution at nucleotide position 604, causing the glutamic acid (E) at amino acid position 202 to be replaced by a lysine (K). 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