chrX-64224379-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_130388.4(ASB12):c.913G>C(p.Asp305His) 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. 10/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_130388.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASB12 | NM_130388.4 | c.913G>C | p.Asp305His | missense_variant | Exon 3 of 3 | ENST00000362002.3 | NP_569059.3 | |
LOC112268307 | XM_047442705.1 | c.125+17339C>G | intron_variant | Intron 2 of 4 | XP_047298661.1 | |||
LOC112268307 | XM_047442706.1 | c.125+17339C>G | intron_variant | Intron 2 of 3 | XP_047298662.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.913G>C (p.D305H) alteration is located in exon 3 (coding exon 2) of the ASB12 gene. This alteration results from a G to C substitution at nucleotide position 913, causing the aspartic acid (D) at amino acid position 305 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
Publications
No publications associated with this variant yet.