rs621375
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP7BA1
The NM_001001936.3(AFAP1L2):āc.621A>Gā(p.Lys207Lys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.214 in 1,608,964 control chromosomes in the GnomAD database, including 46,353 homozygotes. 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_001001936.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AFAP1L2 | ENST00000304129.9 | c.621A>G | p.Lys207Lys | synonymous_variant | Exon 7 of 19 | 1 | NM_001001936.3 | ENSP00000303042.4 | ||
AFAP1L2 | ENST00000369271.7 | c.621A>G | p.Lys207Lys | synonymous_variant | Exon 7 of 19 | 1 | ENSP00000358276.3 | |||
AFAP1L2 | ENST00000696688.1 | c.705A>G | p.Lys235Lys | synonymous_variant | Exon 8 of 20 | ENSP00000512810.1 | ||||
AFAP1L2 | ENST00000419268.1 | c.675A>G | p.Lys225Lys | synonymous_variant | Exon 8 of 9 | 5 | ENSP00000396781.1 |
Frequencies
GnomAD3 genomes AF: 0.315 AC: 47779AN: 151786Hom.: 10849 Cov.: 32
GnomAD3 exomes AF: 0.224 AC: 56110AN: 250406Hom.: 8560 AF XY: 0.226 AC XY: 30543AN XY: 135276
GnomAD4 exome AF: 0.203 AC: 296204AN: 1457060Hom.: 35478 Cov.: 35 AF XY: 0.207 AC XY: 149704AN XY: 723828
GnomAD4 genome AF: 0.315 AC: 47853AN: 151904Hom.: 10875 Cov.: 32 AF XY: 0.312 AC XY: 23142AN XY: 74238
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at