chr7-151186907-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001142459.2(ASB10):c.224C>A(p.Ala75Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00117 in 1,614,034 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. A75A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001142459.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASB10 | NM_001142459.2 | c.224C>A | p.Ala75Glu | missense_variant | 1/6 | ENST00000420175.3 | |
ASB10 | NM_001142460.1 | c.224C>A | p.Ala75Glu | missense_variant | 1/5 | ||
ASB10 | NM_080871.4 | c.272-248C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000420175.3 | c.224C>A | p.Ala75Glu | missense_variant | 1/6 | 1 | NM_001142459.2 | P4 | |
ASB10 | ENST00000275838.5 | c.224C>A | p.Ala75Glu | missense_variant | 1/5 | 1 | |||
ASB10 | ENST00000377867.7 | c.272-248C>A | intron_variant | 2 | A1 | ||||
ASB10 | ENST00000415615.1 | c.*268C>A | 3_prime_UTR_variant, NMD_transcript_variant | 2/3 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.00586 AC: 892AN: 152228Hom.: 10 Cov.: 32
GnomAD3 exomes AF: 0.00164 AC: 408AN: 249188Hom.: 4 AF XY: 0.00118 AC XY: 159AN XY: 134958
GnomAD4 exome AF: 0.000683 AC: 999AN: 1461688Hom.: 11 Cov.: 35 AF XY: 0.000593 AC XY: 431AN XY: 727168
GnomAD4 genome ? AF: 0.00585 AC: 891AN: 152346Hom.: 9 Cov.: 32 AF XY: 0.00528 AC XY: 393AN XY: 74496
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 11, 2020 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Nov 10, 2023 | - - |
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