rs774538027
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001384749.1(HOXB3):c.1031C>G(p.Pro344Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000328 in 1,522,076 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_001384749.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HOXB3 | NM_001384749.1 | c.1031C>G | p.Pro344Arg | missense_variant | Exon 5 of 5 | ENST00000498678.6 | NP_001371678.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152112Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000291 AC: 5AN: 171826Hom.: 0 AF XY: 0.0000108 AC XY: 1AN XY: 92308
GnomAD4 exome AF: 7.30e-7 AC: 1AN: 1369964Hom.: 0 Cov.: 32 AF XY: 0.00000148 AC XY: 1AN XY: 673484
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74296
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1031C>G (p.P344R) alteration is located in exon 4 (coding exon 2) of the HOXB3 gene. This alteration results from a C to G substitution at nucleotide position 1031, causing the proline (P) at amino acid position 344 to be replaced by an arginine (R). 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