rs373911488
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_025145.7(CFAP43):c.2802T>C(p.Cys934=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000193 in 1,605,944 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_025145.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CFAP43 | NM_025145.7 | c.2802T>C | p.Cys934= | synonymous_variant | 22/38 | ENST00000357060.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP43 | ENST00000357060.8 | c.2802T>C | p.Cys934= | synonymous_variant | 22/38 | 1 | NM_025145.7 | P1 | |
CFAP43 | ENST00000434629.5 | c.885T>C | p.Cys295= | synonymous_variant | 8/23 | 1 | |||
CFAP43 | ENST00000278064.7 | c.2805T>C | p.Cys935= | synonymous_variant | 22/22 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.000105 AC: 16AN: 152226Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000287 AC: 7AN: 244316Hom.: 0 AF XY: 0.0000378 AC XY: 5AN XY: 132348
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1453718Hom.: 0 Cov.: 29 AF XY: 0.0000111 AC XY: 8AN XY: 723412
GnomAD4 genome ? AF: 0.000105 AC: 16AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at