rs2304934
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_139249.4(MS4A6E):c.28A>C(p.Thr10Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 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. T10A) has been classified as Likely benign.
Frequency
Consequence
NM_139249.4 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 |
---|---|---|---|---|---|---|---|
MS4A6E | NM_139249.4 | c.28A>C | p.Thr10Pro | missense_variant | 2/5 | ENST00000684409.1 | |
MS4A6E | NR_170614.1 | n.196A>C | non_coding_transcript_exon_variant | 2/6 | |||
MS4A6E | NR_170615.1 | n.196A>C | non_coding_transcript_exon_variant | 2/5 | |||
MS4A6E | NR_170616.1 | n.196A>C | non_coding_transcript_exon_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MS4A6E | ENST00000684409.1 | c.28A>C | p.Thr10Pro | missense_variant | 2/5 | NM_139249.4 | P1 | ||
MS4A6E | ENST00000300182.8 | c.28A>C | p.Thr10Pro | missense_variant | 1/4 | 1 | P1 | ||
MS4A6E | ENST00000532756.1 | upstream_gene_variant | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 37
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at