7-151187179-CAGAGAG-CAGAG
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_001142459.2(ASB10):c.-51_-50delCT variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0636 in 1,116,648 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001142459.2 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASB10 | NM_001142459.2 | c.-51_-50delCT | 5_prime_UTR_variant | Exon 1 of 6 | ENST00000420175.3 | NP_001135931.2 | ||
ASB10 | NM_001142460.1 | c.-51_-50delCT | 5_prime_UTR_variant | Exon 1 of 5 | NP_001135932.2 | |||
ASB10 | NM_080871.4 | c.271+271_271+272delCT | intron_variant | Intron 1 of 5 | NP_543147.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000420175.3 | c.-51_-50delCT | 5_prime_UTR_variant | Exon 1 of 6 | 1 | NM_001142459.2 | ENSP00000391137.2 | |||
ASB10 | ENST00000275838.5 | c.-51_-50delCT | 5_prime_UTR_variant | Exon 1 of 5 | 1 | ENSP00000275838.1 | ||||
ASB10 | ENST00000377867.7 | c.271+271_271+272delCT | intron_variant | Intron 1 of 5 | 2 | ENSP00000367098.3 | ||||
ASB10 | ENST00000415615.1 | n.*121+73_*121+74delCT | intron_variant | Intron 1 of 2 | 4 | ENSP00000410871.1 |
Frequencies
GnomAD3 genomes AF: 0.000670 AC: 100AN: 149144Hom.: 0 Cov.: 22
GnomAD4 exome AF: 0.0733 AC: 70914AN: 967418Hom.: 0 AF XY: 0.0784 AC XY: 37316AN XY: 476098
GnomAD4 genome AF: 0.000670 AC: 100AN: 149230Hom.: 0 Cov.: 22 AF XY: 0.000701 AC XY: 51AN XY: 72798
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC frequency -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at