7-151186461-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001142459.2(ASB10):c.515C>G(p.Ala172Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000113 in 1,594,072 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. A172V) 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.515C>G | p.Ala172Gly | missense_variant | 2/6 | ENST00000420175.3 | |
ASB10 | NM_080871.4 | c.470C>G | p.Ala157Gly | missense_variant | 2/6 | ||
ASB10 | NM_001142460.1 | c.515C>G | p.Ala172Gly | missense_variant | 2/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000420175.3 | c.515C>G | p.Ala172Gly | missense_variant | 2/6 | 1 | NM_001142459.2 | P4 | |
ASB10 | ENST00000275838.5 | c.515C>G | p.Ala172Gly | missense_variant | 2/5 | 1 | |||
ASB10 | ENST00000377867.7 | c.470C>G | p.Ala157Gly | missense_variant | 2/6 | 2 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000591 AC: 9AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000190 AC: 4AN: 210960Hom.: 0 AF XY: 0.00000875 AC XY: 1AN XY: 114270
GnomAD4 exome AF: 0.00000624 AC: 9AN: 1441744Hom.: 0 Cov.: 31 AF XY: 0.00000699 AC XY: 5AN XY: 715446
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152328Hom.: 0 Cov.: 32 AF XY: 0.0000805 AC XY: 6AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 11, 2024 | The c.515C>G (p.A172G) alteration is located in exon 2 (coding exon 2) of the ASB10 gene. This alteration results from a C to G substitution at nucleotide position 515, causing the alanine (A) at amino acid position 172 to be replaced by a glycine (G). 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