chr14-72951865-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015604.4(DCAF4):āc.796A>Cā(p.Asn266His) variant causes a missense change. The variant allele was found at a frequency of 0.000088 in 1,613,998 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N266D) has been classified as Uncertain significance.
Frequency
Consequence
NM_015604.4 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 |
---|---|---|---|---|---|---|---|
DCAF4 | NM_015604.4 | c.796A>C | p.Asn266His | missense_variant | 9/14 | ENST00000358377.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DCAF4 | ENST00000358377.7 | c.796A>C | p.Asn266His | missense_variant | 9/14 | 1 | NM_015604.4 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251376Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135858
GnomAD4 exome AF: 0.0000930 AC: 136AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.0000880 AC XY: 64AN XY: 727238
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2023 | The c.796A>C (p.N266H) alteration is located in exon 9 (coding exon 8) of the DCAF4 gene. This alteration results from a A to C substitution at nucleotide position 796, causing the asparagine (N) at amino acid position 266 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at