19-7745625-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021155.4(CD209):c.641A>G(p.Glu214Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (★).
Frequency
Consequence
NM_021155.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD209 | ENST00000315599.12 | c.641A>G | p.Glu214Gly | missense_variant | Exon 4 of 7 | 1 | NM_021155.4 | ENSP00000315477.6 | ||
ENSG00000288669 | ENST00000678003.1 | n.38A>G | non_coding_transcript_exon_variant | Exon 1 of 13 | ENSP00000504497.1 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome Cov.: 0
GnomAD4 genome Cov.: 29
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.641A>G (p.E214G) alteration is located in exon 4 (coding exon 4) of the CD209 gene. This alteration results from a A to G substitution at nucleotide position 641, causing the glutamic acid (E) at amino acid position 214 to be replaced by a glycine (G). 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