chr6-31025928-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001395414.1(MUC22):c.497C>T(p.Thr166Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000782 in 1,535,094 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001395414.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MUC22 | NM_001395414.1 | c.497C>T | p.Thr166Met | missense_variant | 2/4 | ENST00000561890.1 | NP_001382343.1 | |
MUC22 | NM_001318484.1 | c.506C>T | p.Thr169Met | missense_variant | 3/5 | NP_001305413.1 | ||
MUC22 | NM_001198815.1 | c.497C>T | p.Thr166Met | missense_variant | 3/5 | NP_001185744.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MUC22 | ENST00000561890.1 | c.497C>T | p.Thr166Met | missense_variant | 2/4 | 2 | NM_001395414.1 | ENSP00000455906 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151734Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000233 AC: 3AN: 128638Hom.: 0 AF XY: 0.0000284 AC XY: 2AN XY: 70352
GnomAD4 exome AF: 0.00000651 AC: 9AN: 1383360Hom.: 0 Cov.: 86 AF XY: 0.0000103 AC XY: 7AN XY: 682532
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151734Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74088
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 24, 2024 | The c.497C>T (p.T166M) alteration is located in exon 3 (coding exon 2) of the MUC22 gene. This alteration results from a C to T substitution at nucleotide position 497, causing the threonine (T) at amino acid position 166 to be replaced by a methionine (M). 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