2-70831704-A-G
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The ENST00000410009.5(CD207):āc.833T>Cā(p.Val278Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.447 in 1,598,148 control chromosomes in the GnomAD database, including 163,166 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000410009.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CD207 | NM_015717.5 | c.833T>C | p.Val278Ala | missense_variant | 5/6 | ENST00000410009.5 | NP_056532.4 | |
CD207 | XM_011532875.3 | c.833T>C | p.Val278Ala | missense_variant | 5/7 | XP_011531177.1 | ||
CD207 | XM_011532876.3 | c.833T>C | p.Val278Ala | missense_variant | 5/6 | XP_011531178.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD207 | ENST00000410009.5 | c.833T>C | p.Val278Ala | missense_variant | 5/6 | 1 | NM_015717.5 | ENSP00000386378 | P1 |
Frequencies
GnomAD3 genomes AF: 0.466 AC: 70747AN: 151904Hom.: 16678 Cov.: 32
GnomAD3 exomes AF: 0.473 AC: 117849AN: 249170Hom.: 28706 AF XY: 0.475 AC XY: 64239AN XY: 135172
GnomAD4 exome AF: 0.445 AC: 643655AN: 1446126Hom.: 146482 Cov.: 29 AF XY: 0.449 AC XY: 323193AN XY: 720278
GnomAD4 genome AF: 0.466 AC: 70789AN: 152022Hom.: 16684 Cov.: 32 AF XY: 0.475 AC XY: 35340AN XY: 74328
ClinVar
Submissions by phenotype
CD207-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 17, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at