7-101032564-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001040105.2(MUC17):c.1148T>A(p.Met383Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,854 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001040105.2 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 | UniProt |
---|---|---|---|---|---|---|---|
MUC17 | NM_001040105.2 | c.1148T>A | p.Met383Lys | missense_variant | 3/13 | ENST00000306151.9 | |
MUC17 | NR_133665.2 | n.1203T>A | non_coding_transcript_exon_variant | 3/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC17 | ENST00000306151.9 | c.1148T>A | p.Met383Lys | missense_variant | 3/13 | 1 | NM_001040105.2 | P1 | |
MUC17 | ENST00000379439.3 | c.1148T>A | p.Met383Lys | missense_variant, NMD_transcript_variant | 3/12 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461854Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 727230
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 01, 2024 | The c.1148T>A (p.M383K) alteration is located in exon 3 (coding exon 3) of the MUC17 gene. This alteration results from a T to A substitution at nucleotide position 1148, causing the methionine (M) at amino acid position 383 to be replaced by a lysine (K). 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