2-70831156-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_015717.5(CD207):c.881A>C(p.His294Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,598 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015717.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD207 | NM_015717.5 | c.881A>C | p.His294Pro | missense_variant | 6/6 | ENST00000410009.5 | |
CD207 | XM_011532875.3 | c.850+31A>C | intron_variant | ||||
CD207 | XM_011532876.3 | c.836+545A>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD207 | ENST00000410009.5 | c.881A>C | p.His294Pro | missense_variant | 6/6 | 1 | NM_015717.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461598Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727094
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 05, 2024 | The c.881A>C (p.H294P) alteration is located in exon 6 (coding exon 6) of the CD207 gene. This alteration results from a A to C substitution at nucleotide position 881, causing the histidine (H) at amino acid position 294 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.