NM_002458.3:c.8586A>C
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_002458.3(MUC5B):c.8586A>C(p.Pro2862Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.178 in 1,095,550 control chromosomes in the GnomAD database, including 77,194 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002458.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.200 AC: 14723AN: 73454Hom.: 2947 Cov.: 17
GnomAD3 exomes AF: 0.266 AC: 44800AN: 168454Hom.: 18807 AF XY: 0.260 AC XY: 23920AN XY: 91972
GnomAD4 exome AF: 0.178 AC: 194919AN: 1095550Hom.: 77194 Cov.: 41 AF XY: 0.184 AC XY: 100334AN XY: 543980
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.200 AC: 14737AN: 73506Hom.: 2950 Cov.: 17 AF XY: 0.193 AC XY: 6796AN XY: 35228
ClinVar
Submissions by phenotype
not provided Benign:2
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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: Frequency -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at