NM_152445.3:c.-53A>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_152445.3(FAM161B):c.-53A>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0046 in 1,606,566 control chromosomes in the GnomAD database, including 294 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_152445.3 5_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: 0.0241 AC: 3670AN: 152112Hom.: 138 Cov.: 32
GnomAD3 exomes AF: 0.00650 AC: 1570AN: 241524Hom.: 75 AF XY: 0.00499 AC XY: 659AN XY: 131938
GnomAD4 exome AF: 0.00255 AC: 3715AN: 1454338Hom.: 155 Cov.: 32 AF XY: 0.00219 AC XY: 1588AN XY: 723854
GnomAD4 genome AF: 0.0242 AC: 3677AN: 152228Hom.: 139 Cov.: 32 AF XY: 0.0223 AC XY: 1661AN XY: 74452
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at