16-1841842-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001163560.3(MEIOB):c.1012A>C(p.Thr338Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000106 in 1,586,814 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★).
Frequency
Consequence
NM_001163560.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152228Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000943 AC: 22AN: 233224Hom.: 0 AF XY: 0.0000793 AC XY: 10AN XY: 126090
GnomAD4 exome AF: 0.000106 AC: 152AN: 1434468Hom.: 0 Cov.: 29 AF XY: 0.0000969 AC XY: 69AN XY: 711784
GnomAD4 genome AF: 0.000105 AC: 16AN: 152346Hom.: 0 Cov.: 31 AF XY: 0.0000805 AC XY: 6AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1012A>C (p.T338P) alteration is located in exon 11 (coding exon 10) of the MEIOB gene. This alteration results from a A to C substitution at nucleotide position 1012, causing the threonine (T) at amino acid position 338 to be replaced by a proline (P). 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