18-63979886-T-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001348370.2(SERPINB8):c.-144T>G variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00109 in 1,614,068 control chromosomes in the GnomAD database, including 21 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001348370.2 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINB8 | NM_002640.4 | c.254T>G | p.Leu85Trp | missense_variant | Exon 3 of 7 | ENST00000397985.7 | NP_002631.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00596 AC: 907AN: 152196Hom.: 10 Cov.: 32
GnomAD3 exomes AF: 0.00151 AC: 379AN: 251316Hom.: 9 AF XY: 0.00101 AC XY: 137AN XY: 135850
GnomAD4 exome AF: 0.000581 AC: 849AN: 1461754Hom.: 11 Cov.: 32 AF XY: 0.000503 AC XY: 366AN XY: 727186
GnomAD4 genome AF: 0.00595 AC: 907AN: 152314Hom.: 10 Cov.: 32 AF XY: 0.00556 AC XY: 414AN XY: 74480
ClinVar
Submissions by phenotype
not provided Benign:2
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SERPINB8-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at