chr11-1250278-G-A
Variant summary
Our verdict is Benign. The variant received -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_002458.3(MUC5B):c.13398G>A(p.Thr4466Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.31 in 1,611,090 control chromosomes in the GnomAD database, including 80,446 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
Publications
- interstitial lung diseaseInheritance: AR Classification: LIMITED Submitted by: Ambry Genetics
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ACMG classification
Our verdict: Benign. The variant received -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.295 AC: 44186AN: 149938Hom.: 7138 Cov.: 30 show subpopulations
GnomAD2 exomes AF: 0.320 AC: 78854AN: 246290 AF XY: 0.319 show subpopulations
GnomAD4 exome AF: 0.312 AC: 455742AN: 1461032Hom.: 73293 Cov.: 120 AF XY: 0.310 AC XY: 225537AN XY: 726768 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.295 AC: 44221AN: 150058Hom.: 7153 Cov.: 30 AF XY: 0.296 AC XY: 21642AN XY: 73200 show subpopulations
Age Distribution
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