10-87228559-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001099338.2(NUTM2A):c.679G>A(p.Ala227Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001099338.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 6AN: 151066Hom.: 0 Cov.: 26 FAILED QC
GnomAD3 exomes AF: 0.0000960 AC: 8AN: 83330Hom.: 0 AF XY: 0.0000935 AC XY: 4AN XY: 42772
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000745 AC: 108AN: 1450196Hom.: 4 Cov.: 35 AF XY: 0.0000791 AC XY: 57AN XY: 721020
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000463 AC: 7AN: 151186Hom.: 0 Cov.: 26 AF XY: 0.0000406 AC XY: 3AN XY: 73876
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.679G>A (p.A227T) alteration is located in exon 2 (coding exon 2) of the NUTM2A gene. This alteration results from a G to A substitution at nucleotide position 679, causing the alanine (A) at amino acid position 227 to be replaced by a threonine (T). 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