rs773411427
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001134398.2(VAV2):c.2285C>T(p.Thr762Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,614,054 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001134398.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VAV2 | ENST00000371850.8 | c.2285C>T | p.Thr762Ile | missense_variant | Exon 27 of 30 | 1 | NM_001134398.2 | ENSP00000360916.3 | ||
VAV2 | ENST00000406606.7 | c.2255C>T | p.Thr752Ile | missense_variant | Exon 25 of 27 | 1 | ENSP00000385362.3 | |||
VAV2 | ENST00000371851.1 | c.2255C>T | p.Thr752Ile | missense_variant | Exon 25 of 28 | 5 | ENSP00000360917.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 33 show subpopulations
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461834Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727222 show subpopulations
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74354 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2285C>T (p.T762I) alteration is located in exon 27 (coding exon 27) of the VAV2 gene. This alteration results from a C to T substitution at nucleotide position 2285, causing the threonine (T) at amino acid position 762 to be replaced by an isoleucine (I). 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