rs2943529
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002458.3(MUC5B):c.10403G>A(p.Arg3468His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,607,592 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R3468P) has been classified as Benign.
Frequency
Consequence
NM_002458.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUC5B | NM_002458.3 | c.10403G>A | p.Arg3468His | missense_variant | 31/49 | ENST00000529681.5 | |
MUC5B-AS1 | NR_157183.1 | n.56+2338C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC5B | ENST00000529681.5 | c.10403G>A | p.Arg3468His | missense_variant | 31/49 | 5 | NM_002458.3 | P1 | |
MUC5B-AS1 | ENST00000532061.2 | n.56+2338C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000133 AC: 2AN: 150152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000286 AC: 7AN: 244588Hom.: 0 AF XY: 0.0000376 AC XY: 5AN XY: 132932
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1457440Hom.: 0 Cov.: 192 AF XY: 0.0000152 AC XY: 11AN XY: 725054
GnomAD4 genome ? AF: 0.0000133 AC: 2AN: 150152Hom.: 0 Cov.: 32 AF XY: 0.0000137 AC XY: 1AN XY: 73254
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at