chr7-151181306-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBS2_Supporting
The NM_001142459.2(ASB10):c.737C>A(p.Ala246Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,132 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A246A) has been classified as Benign.
Frequency
Consequence
NM_001142459.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASB10 | NM_001142459.2 | c.737C>A | p.Ala246Asp | missense_variant | 3/6 | ENST00000420175.3 | |
ASB10 | NM_080871.4 | c.692C>A | p.Ala231Asp | missense_variant | 3/6 | ||
ASB10 | NM_001142460.1 | c.737C>A | p.Ala246Asp | missense_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000420175.3 | c.737C>A | p.Ala246Asp | missense_variant | 3/6 | 1 | NM_001142459.2 | P4 | |
ASB10 | ENST00000275838.5 | c.737C>A | p.Ala246Asp | missense_variant | 3/5 | 1 | |||
ASB10 | ENST00000377867.7 | c.692C>A | p.Ala231Asp | missense_variant | 3/6 | 2 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152232Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249494Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135466
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1460900Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 726776
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 16, 2021 | The c.737C>A (p.A246D) alteration is located in exon 3 (coding exon 3) of the ASB10 gene. This alteration results from a C to A substitution at nucleotide position 737, causing the alanine (A) at amino acid position 246 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
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