11-1226730-G-C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002458.3(MUC5B):c.315G>C(p.Glu105Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,612,648 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002458.3 missense
Scores
Clinical Significance
Conservation
Publications
- interstitial lung diseaseInheritance: AR Classification: LIMITED Submitted by: Ambry Genetics
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152238Hom.: 0 Cov.: 34 show subpopulations
GnomAD2 exomes AF: 0.0000283 AC: 7AN: 247622 AF XY: 0.0000296 show subpopulations
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1460410Hom.: 0 Cov.: 34 AF XY: 0.0000262 AC XY: 19AN XY: 726482 show subpopulations
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152238Hom.: 0 Cov.: 34 AF XY: 0.0000672 AC XY: 5AN XY: 74364 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.315G>C (p.E105D) alteration is located in exon 4 (coding exon 4) of the MUC5B gene. This alteration results from a G to C substitution at nucleotide position 315, causing the glutamic acid (E) at amino acid position 105 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at