9-129637801-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017873.4(ASB6):c.1255G>T(p.Asp419Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000000735 in 1,360,000 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 (★).
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.1255G>T | p.Asp419Tyr | missense_variant | Exon 6 of 6 | ENST00000277458.5 | NP_060343.1 | |
ASB6 | NM_001202403.2 | c.1168G>T | p.Asp390Tyr | missense_variant | Exon 5 of 5 | NP_001189332.1 | ||
ASB6 | NM_177999.3 | c.*552G>T | 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.1255G>T | p.Asp419Tyr | missense_variant | Exon 6 of 6 | 1 | NM_017873.4 | ENSP00000277458.4 | ||
ASB6 | ENST00000450050.6 | c.1168G>T | p.Asp390Tyr | missense_variant | Exon 5 of 5 | 1 | ENSP00000416172.3 | |||
ASB6 | ENST00000277459 | c.*552G>T | 3_prime_UTR_variant | Exon 5 of 5 | 1 | ENSP00000277459.4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000569 AC: 1AN: 175690Hom.: 0 AF XY: 0.0000108 AC XY: 1AN XY: 92426
GnomAD4 exome AF: 7.35e-7 AC: 1AN: 1360000Hom.: 0 Cov.: 29 AF XY: 0.00000150 AC XY: 1AN XY: 665196
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1255G>T (p.D419Y) alteration is located in exon 6 (coding exon 6) of the ASB6 gene. This alteration results from a G to T substitution at nucleotide position 1255, causing the aspartic acid (D) at amino acid position 419 to be replaced by a tyrosine (Y). 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