rs201778566
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_002458.3(MUC5B):c.13751C>T(p.Thr4584Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0198 in 150,794 control chromosomes in the GnomAD database, including 1 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MUC5B | NM_002458.3 | c.13751C>T | p.Thr4584Ile | missense_variant | 31/49 | ENST00000529681.5 | NP_002449.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MUC5B | ENST00000529681.5 | c.13751C>T | p.Thr4584Ile | missense_variant | 31/49 | 5 | NM_002458.3 | ENSP00000436812 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0199 AC: 2991AN: 150674Hom.: 1 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0270 AC: 39228AN: 1453506Hom.: 2 Cov.: 151 AF XY: 0.0263 AC XY: 19036AN XY: 722996
GnomAD4 genome AF: 0.0198 AC: 2991AN: 150794Hom.: 1 Cov.: 32 AF XY: 0.0199 AC XY: 1466AN XY: 73656
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 28, 2016 | 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
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at