rs532671271
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021008.4(DEAF1):āc.1663G>Cā(p.Val555Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,613,064 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. V555M) has been classified as Uncertain significance.
Frequency
Consequence
NM_021008.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DEAF1 | NM_021008.4 | c.1663G>C | p.Val555Leu | missense_variant | Exon 12 of 12 | ENST00000382409.4 | NP_066288.2 | |
DEAF1 | NM_001293634.1 | c.1438G>C | p.Val480Leu | missense_variant | Exon 11 of 11 | NP_001280563.1 | ||
DEAF1 | NM_001367390.1 | c.937G>C | p.Val313Leu | missense_variant | Exon 12 of 12 | NP_001354319.1 | ||
DEAF1 | XM_047426251.1 | c.937G>C | p.Val313Leu | missense_variant | Exon 12 of 12 | XP_047282207.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460890Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726782
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at