chr7-151187667-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_080871.4(ASB10):c.56C>G(p.Pro19Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00386 in 1,513,956 control chromosomes in the GnomAD database, including 180 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P19S) has been classified as Likely benign.
Frequency
Consequence
NM_080871.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASB10 | NM_080871.4 | c.56C>G | p.Pro19Arg | missense_variant | 1/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000377867.7 | c.56C>G | p.Pro19Arg | missense_variant | 1/6 | 2 | A1 | ||
ASB10 | ENST00000415615.1 | c.56C>G | p.Pro19Arg | missense_variant, NMD_transcript_variant | 1/3 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0194 AC: 2958AN: 152156Hom.: 100 Cov.: 32
GnomAD3 exomes AF: 0.00534 AC: 681AN: 127568Hom.: 23 AF XY: 0.00421 AC XY: 277AN XY: 65856
GnomAD4 exome AF: 0.00212 AC: 2893AN: 1361682Hom.: 80 Cov.: 33 AF XY: 0.00186 AC XY: 1236AN XY: 665822
GnomAD4 genome ? AF: 0.0194 AC: 2955AN: 152274Hom.: 100 Cov.: 32 AF XY: 0.0189 AC XY: 1405AN XY: 74454
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 17, 2019 | This variant is associated with the following publications: (PMID: 22798626) - |
Glaucoma 1, open angle, F Other:1
not provided, no classification provided | literature only | Casey Eye Institute Glaucoma Genetics Lab | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at