chr2-70831053-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_015717.5(CD207):c.984G>A(p.Pro328Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.255 in 1,611,962 control chromosomes in the GnomAD database, including 55,972 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_015717.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CD207 | NM_015717.5 | c.984G>A | p.Pro328Pro | synonymous_variant | Exon 6 of 6 | ENST00000410009.5 | NP_056532.4 | |
CD207 | XM_011532875.3 | c.851-132G>A | intron_variant | Intron 6 of 6 | XP_011531177.1 | |||
CD207 | XM_011532876.3 | c.836+648G>A | intron_variant | Intron 5 of 5 | XP_011531178.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.236 AC: 35802AN: 151938Hom.: 4522 Cov.: 32
GnomAD3 exomes AF: 0.213 AC: 52918AN: 248124Hom.: 6632 AF XY: 0.217 AC XY: 29214AN XY: 134528
GnomAD4 exome AF: 0.257 AC: 375762AN: 1459906Hom.: 51445 Cov.: 31 AF XY: 0.255 AC XY: 185210AN XY: 726162
GnomAD4 genome AF: 0.236 AC: 35822AN: 152056Hom.: 4527 Cov.: 32 AF XY: 0.230 AC XY: 17093AN XY: 74350
ClinVar
Submissions by phenotype
CD207-related disorder Benign:1
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