chr9-129638026-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017873.4(ASB6):c.1030G>A(p.Glu344Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,613,892 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017873.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASB6 | NM_017873.4 | c.1030G>A | p.Glu344Lys | missense_variant | Exon 6 of 6 | ENST00000277458.5 | NP_060343.1 | |
ASB6 | NM_001202403.2 | c.943G>A | p.Glu315Lys | missense_variant | Exon 5 of 5 | NP_001189332.1 | ||
ASB6 | NM_177999.3 | c.*327G>A | 3_prime_UTR_variant | Exon 5 of 5 | NP_821066.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASB6 | ENST00000277458.5 | c.1030G>A | p.Glu344Lys | missense_variant | Exon 6 of 6 | 1 | NM_017873.4 | ENSP00000277458.4 | ||
ASB6 | ENST00000450050.6 | c.943G>A | p.Glu315Lys | missense_variant | Exon 5 of 5 | 1 | ENSP00000416172.3 | |||
ASB6 | ENST00000277459 | c.*327G>A | 3_prime_UTR_variant | Exon 5 of 5 | 1 | ENSP00000277459.4 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152204Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000280 AC: 7AN: 249624Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135006
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461688Hom.: 0 Cov.: 30 AF XY: 0.0000110 AC XY: 8AN XY: 727124
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152204Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1030G>A (p.E344K) alteration is located in exon 6 (coding exon 6) of the ASB6 gene. This alteration results from a G to A substitution at nucleotide position 1030, causing the glutamic acid (E) at amino acid position 344 to be replaced by a lysine (K). 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