chr1-43183837-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001378189.1(CFAP57):āc.721A>Gā(p.Asn241Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.418 in 1,613,802 control chromosomes in the GnomAD database, including 147,736 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001378189.1 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 |
---|---|---|---|---|---|---|---|
CFAP57 | NM_001378189.1 | c.721A>G | p.Asn241Asp | missense_variant | 4/23 | ENST00000372492.9 | |
LOC105378685 | XR_007066041.1 | n.670-2053T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP57 | ENST00000372492.9 | c.721A>G | p.Asn241Asp | missense_variant | 4/23 | 5 | NM_001378189.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.511 AC: 77684AN: 151914Hom.: 22098 Cov.: 32
GnomAD3 exomes AF: 0.445 AC: 111671AN: 250912Hom.: 26317 AF XY: 0.437 AC XY: 59278AN XY: 135606
GnomAD4 exome AF: 0.408 AC: 596340AN: 1461772Hom.: 125590 Cov.: 52 AF XY: 0.408 AC XY: 296492AN XY: 727198
GnomAD4 genome AF: 0.512 AC: 77793AN: 152030Hom.: 22146 Cov.: 32 AF XY: 0.511 AC XY: 37983AN XY: 74320
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at