2-70833805-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_015717.5(CD207):c.406C>G(p.Gln136Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.282 in 1,613,668 control chromosomes in the GnomAD database, including 70,186 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 (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_015717.5 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD207 | NM_015717.5 | c.406C>G | p.Gln136Glu | missense_variant | 3/6 | ENST00000410009.5 | |
CD207 | XM_011532875.3 | c.406C>G | p.Gln136Glu | missense_variant | 3/7 | ||
CD207 | XM_011532876.3 | c.406C>G | p.Gln136Glu | missense_variant | 3/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD207 | ENST00000410009.5 | c.406C>G | p.Gln136Glu | missense_variant | 3/6 | 1 | NM_015717.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.218 AC: 33159AN: 152044Hom.: 4612 Cov.: 32
GnomAD3 exomes AF: 0.232 AC: 57899AN: 249198Hom.: 8211 AF XY: 0.242 AC XY: 32664AN XY: 135184
GnomAD4 exome AF: 0.289 AC: 422534AN: 1461506Hom.: 65578 Cov.: 40 AF XY: 0.288 AC XY: 209257AN XY: 727040
GnomAD4 genome ? AF: 0.218 AC: 33159AN: 152162Hom.: 4608 Cov.: 32 AF XY: 0.214 AC XY: 15919AN XY: 74376
ClinVar
Submissions by phenotype
CD207-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 21, 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