1-207888713-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001025109.2(CD34):c.941G>A(p.Arg314His) variant causes a missense change. The variant allele was found at a frequency of 0.0000768 in 1,614,080 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_001025109.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD34 | ENST00000310833.12 | c.941G>A | p.Arg314His | missense_variant | Exon 7 of 8 | 1 | NM_001025109.2 | ENSP00000310036.7 | ||
CD34 | ENST00000356522.4 | c.941G>A | p.Arg314His | missense_variant | Exon 7 of 8 | 1 | ENSP00000348916.4 | |||
CD34 | ENST00000367036.7 | c.467G>A | p.Arg156His | missense_variant | Exon 4 of 5 | 1 | ENSP00000356003.3 | |||
CD34 | ENST00000485761.1 | n.587G>A | non_coding_transcript_exon_variant | Exon 5 of 6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251390Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135858
GnomAD4 exome AF: 0.0000787 AC: 115AN: 1461870Hom.: 0 Cov.: 32 AF XY: 0.0000825 AC XY: 60AN XY: 727234
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.941G>A (p.R314H) alteration is located in exon 7 (coding exon 7) of the CD34 gene. This alteration results from a G to A substitution at nucleotide position 941, causing the arginine (R) at amino acid position 314 to be replaced by a histidine (H). 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