7-151176251-G-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001142459.2(ASB10):c.1265C>A(p.Pro422His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000164 in 1,587,646 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P422R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001142459.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASB10 | NM_001142459.2 | c.1265C>A | p.Pro422His | missense_variant | 5/6 | ENST00000420175.3 | |
ASB10 | NM_080871.4 | c.1220C>A | p.Pro407His | missense_variant | 5/6 | ||
ASB10 | NM_001142460.1 | c.1151C>A | p.Pro384His | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000420175.3 | c.1265C>A | p.Pro422His | missense_variant | 5/6 | 1 | NM_001142459.2 | P4 | |
ASB10 | ENST00000275838.5 | c.1151C>A | p.Pro384His | missense_variant | 4/5 | 1 | |||
ASB10 | ENST00000377867.7 | c.1220C>A | p.Pro407His | missense_variant | 5/6 | 2 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152142Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000103 AC: 23AN: 223810Hom.: 0 AF XY: 0.0000903 AC XY: 11AN XY: 121834
GnomAD4 exome AF: 0.0000153 AC: 22AN: 1435386Hom.: 0 Cov.: 31 AF XY: 0.0000154 AC XY: 11AN XY: 712156
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152260Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74436
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 19, 2023 | The c.1265C>A (p.P422H) alteration is located in exon 5 (coding exon 5) of the ASB10 gene. This alteration results from a C to A substitution at nucleotide position 1265, causing the proline (P) at amino acid position 422 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