NM_000101.4:c.*49T>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000101.4(CYBA):c.*49T>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 0.624 in 1,358,570 control chromosomes in the GnomAD database, including 268,002 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000101.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.690 AC: 104570AN: 151652Hom.: 36808 Cov.: 31
GnomAD3 exomes AF: 0.618 AC: 44774AN: 72504Hom.: 14052 AF XY: 0.620 AC XY: 25486AN XY: 41116
GnomAD4 exome AF: 0.616 AC: 742928AN: 1206800Hom.: 231144 Cov.: 18 AF XY: 0.617 AC XY: 366682AN XY: 594336
GnomAD4 genome AF: 0.690 AC: 104673AN: 151770Hom.: 36858 Cov.: 31 AF XY: 0.694 AC XY: 51469AN XY: 74170
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 85% of patients studied by a panel of primary immunodeficiencies. Number of patients: 81. Only high quality variants are reported. -
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at