rs1174658
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_203454.3(APOBEC4):c.812T>C(p.Phe271Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.392 in 1,613,898 control chromosomes in the GnomAD database, including 126,235 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_203454.3 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 |
---|---|---|---|---|---|---|---|
APOBEC4 | NM_203454.3 | c.812T>C | p.Phe271Ser | missense_variant | 2/2 | ENST00000308641.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOBEC4 | ENST00000308641.6 | c.812T>C | p.Phe271Ser | missense_variant | 2/2 | 1 | NM_203454.3 | P1 | |
RGL1 | ENST00000304685.8 | c.-33+11469A>G | intron_variant | 1 | |||||
APOBEC4 | ENST00000481562.1 | n.246-173T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.397 AC: 60336AN: 151926Hom.: 12193 Cov.: 32
GnomAD3 exomes AF: 0.363 AC: 91333AN: 251408Hom.: 17096 AF XY: 0.362 AC XY: 49237AN XY: 135880
GnomAD4 exome AF: 0.391 AC: 572193AN: 1461854Hom.: 114023 Cov.: 65 AF XY: 0.389 AC XY: 282871AN XY: 727228
GnomAD4 genome ? AF: 0.397 AC: 60395AN: 152044Hom.: 12212 Cov.: 32 AF XY: 0.392 AC XY: 29136AN XY: 74300
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at