chr6-31724604-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138272.3(MPIG6B):c.518C>A(p.Pro173Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000182 in 1,613,858 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_138272.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000158 AC: 24AN: 152154Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000111 AC: 28AN: 251480Hom.: 0 AF XY: 0.0000956 AC XY: 13AN XY: 135914
GnomAD4 exome AF: 0.000184 AC: 269AN: 1461586Hom.: 0 Cov.: 32 AF XY: 0.000193 AC XY: 140AN XY: 727136
GnomAD4 genome AF: 0.000158 AC: 24AN: 152272Hom.: 0 Cov.: 31 AF XY: 0.000201 AC XY: 15AN XY: 74458
ClinVar
Submissions by phenotype
Thrombocytopenia, anemia, and myelofibrosis Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Baylor Genetics | Dec 02, 2019 | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. - |
Uncertain significance, criteria provided, single submitter | research | Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | Mar 25, 2024 | - - |
not provided Uncertain:2
Uncertain significance, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Mayo Clinic Laboratories, Mayo Clinic | Jan 22, 2024 | BP4, PM1_supporting - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at