chr1-207888710-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001025109.2(CD34):c.944G>A(p.Arg315His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000162 in 1,614,086 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001025109.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
CD34 | ENST00000310833.12 | c.944G>A | p.Arg315His | missense_variant | Exon 7 of 8 | 1 | NM_001025109.2 | ENSP00000310036.7 | ||
CD34 | ENST00000356522.4 | c.944G>A | p.Arg315His | missense_variant | Exon 7 of 8 | 1 | ENSP00000348916.4 | |||
CD34 | ENST00000367036.7 | c.470G>A | p.Arg157His | missense_variant | Exon 4 of 5 | 1 | ENSP00000356003.3 | |||
CD34 | ENST00000485761.1 | n.590G>A | non_coding_transcript_exon_variant | Exon 5 of 6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000985 AC: 15AN: 152222Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000195 AC: 49AN: 251380Hom.: 0 AF XY: 0.000221 AC XY: 30AN XY: 135848
GnomAD4 exome AF: 0.000169 AC: 247AN: 1461864Hom.: 1 Cov.: 32 AF XY: 0.000175 AC XY: 127AN XY: 727234
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152222Hom.: 0 Cov.: 33 AF XY: 0.0000941 AC XY: 7AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.944G>A (p.R315H) 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 944, causing the arginine (R) at amino acid position 315 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