6-30986573-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001010909.5(MUC21):c.398G>A(p.Ser133Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S133G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001010909.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUC21 | NM_001010909.5 | c.398G>A | p.Ser133Asn | missense_variant | 2/3 | ENST00000376296.3 | |
MUC21 | NR_130720.3 | n.781G>A | non_coding_transcript_exon_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC21 | ENST00000376296.3 | c.398G>A | p.Ser133Asn | missense_variant | 2/3 | 1 | NM_001010909.5 | P1 | |
MUC21 | ENST00000486149.2 | c.-965G>A | 5_prime_UTR_variant | 2/3 | 1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 4AN: 150512Hom.: 0 Cov.: 33 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000351 AC: 5AN: 1424730Hom.: 0 Cov.: 171 AF XY: 0.00000282 AC XY: 2AN XY: 708340
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000266 AC: 4AN: 150614Hom.: 0 Cov.: 33 AF XY: 0.0000136 AC XY: 1AN XY: 73578
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at