chr7-87908033-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006716.4(DBF4):āc.1895T>Gā(p.Leu632Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,613,702 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006716.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DBF4 | NM_006716.4 | c.1895T>G | p.Leu632Trp | missense_variant | 12/12 | ENST00000265728.6 | |
DBF4 | NM_001318061.2 | c.1223T>G | p.Leu408Trp | missense_variant | 12/12 | ||
DBF4 | NM_001318060.2 | c.1196T>G | p.Leu399Trp | missense_variant | 11/11 | ||
DBF4 | NM_001318062.2 | c.1115T>G | p.Leu372Trp | missense_variant | 12/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DBF4 | ENST00000265728.6 | c.1895T>G | p.Leu632Trp | missense_variant | 12/12 | 1 | NM_006716.4 | P1 | |
DBF4 | ENST00000413643.5 | c.*1129T>G | 3_prime_UTR_variant, NMD_transcript_variant | 12/12 | 1 | ||||
DBF4 | ENST00000431138.5 | c.*1668T>G | 3_prime_UTR_variant, NMD_transcript_variant | 12/12 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000399 AC: 10AN: 250718Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135590
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461480Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727050
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at