11-5225483-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000518.5(HBB):c.*115A>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000119 in 839,112 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000518.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000119 AC: 1AN: 839112Hom.: 0 Cov.: 11 AF XY: 0.00000226 AC XY: 1AN XY: 441756
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
Variant summary: The c.*115A>C variant affects a moderately conserved nucleotide, resulting in 3-prime UTR change. The variant is located within the known polyA tail, thus it is expected to alter mRNA expression. Other changes at polyA tail, such as c.*110T>C and c.*110_*111delTA, have been evaluated as pathogenic/likely pathogenic by our lab. This variant is not found in approximately 121150 control chromosomes from the broad and large populations of ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories, nor evaluated for functional impact by in vivo/vitro studies. Due to the lack of clinical information and functional studies, the variant has currently been classified as a Variant of Uncertain Significance until more information becomes available. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at