17-31305152-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006495.4(EVI2B):c.458T>C(p.Val153Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000294 in 1,461,894 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_006495.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EVI2B | NM_006495.4 | c.458T>C | p.Val153Ala | missense_variant | 2/2 | ENST00000330927.5 | |
NF1 | NM_001042492.3 | c.4836-20668A>G | intron_variant | ENST00000358273.9 | |||
NF1 | NM_000267.3 | c.4773-20668A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EVI2B | ENST00000330927.5 | c.458T>C | p.Val153Ala | missense_variant | 2/2 | 1 | NM_006495.4 | P1 | |
NF1 | ENST00000358273.9 | c.4836-20668A>G | intron_variant | 1 | NM_001042492.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251272Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135798
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1461894Hom.: 0 Cov.: 32 AF XY: 0.0000275 AC XY: 20AN XY: 727248
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2022 | The c.458T>C (p.V153A) alteration is located in exon 2 (coding exon 1) of the EVI2B gene. This alteration results from a T to C substitution at nucleotide position 458, causing the valine (V) at amino acid position 153 to be replaced by an alanine (A). 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