rs184215485
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_002458.3(MUC5B):c.9626G>A(p.Arg3209Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0253 in 150,046 control chromosomes in the GnomAD database, including 68 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002458.3 missense
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: 0.0253 AC: 3800AN: 149924Hom.: 68 Cov.: 32
GnomAD3 exomes AF: 0.00978 AC: 2370AN: 242354Hom.: 112 AF XY: 0.00905 AC XY: 1188AN XY: 131334
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0257 AC: 37187AN: 1447650Hom.: 907 Cov.: 126 AF XY: 0.0251 AC XY: 18060AN XY: 720182
GnomAD4 genome AF: 0.0253 AC: 3799AN: 150046Hom.: 68 Cov.: 32 AF XY: 0.0256 AC XY: 1875AN XY: 73240
ClinVar
Submissions by phenotype
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 -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at