6-30986572-A-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001010909.5(MUC21):āc.397A>Gā(p.Ser133Gly) 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 (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S133N) 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.397A>G | p.Ser133Gly | missense_variant | 2/3 | ENST00000376296.3 | |
MUC21 | NR_130720.3 | n.780A>G | non_coding_transcript_exon_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC21 | ENST00000376296.3 | c.397A>G | p.Ser133Gly | missense_variant | 2/3 | 1 | NM_001010909.5 | P1 | |
MUC21 | ENST00000486149.2 | c.-966A>G | 5_prime_UTR_variant | 2/3 | 1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 14AN: 148376Hom.: 0 Cov.: 32 FAILED QC
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251186Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135782
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000632 AC: 9AN: 1424368Hom.: 0 Cov.: 171 AF XY: 0.00000141 AC XY: 1AN XY: 708136
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000943 AC: 14AN: 148474Hom.: 0 Cov.: 32 AF XY: 0.0000827 AC XY: 6AN XY: 72542
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 13, 2021 | The c.397A>G (p.S133G) alteration is located in exon 2 (coding exon 2) of the MUC21 gene. This alteration results from a A to G substitution at nucleotide position 397, causing the serine (S) at amino acid position 133 to be replaced by a glycine (G). 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