chr14-93934729-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001202429.2(ASB2):c.1835G>A(p.Arg612His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,613,486 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. R612C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001202429.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASB2 | NM_001202429.2 | c.1835G>A | p.Arg612His | missense_variant | Exon 10 of 10 | ENST00000555019.6 | NP_001189358.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASB2 | ENST00000555019.6 | c.1835G>A | p.Arg612His | missense_variant | Exon 10 of 10 | 1 | NM_001202429.2 | ENSP00000451575.1 | ||
ASB2 | ENST00000315988.8 | c.1691G>A | p.Arg564His | missense_variant | Exon 8 of 8 | 1 | ENSP00000320675.4 | |||
ASB2 | ENST00000553883.1 | n.1606G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000883 AC: 22AN: 249274Hom.: 0 AF XY: 0.0000889 AC XY: 12AN XY: 134920
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461304Hom.: 0 Cov.: 30 AF XY: 0.0000289 AC XY: 21AN XY: 727018
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1835G>A (p.R612H) alteration is located in exon 10 (coding exon 9) of the ASB2 gene. This alteration results from a G to A substitution at nucleotide position 1835, causing the arginine (R) at amino acid position 612 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