rs1325914109
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001191055.2(ERVV-2):āc.784A>Cā(p.Lys262Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001191055.2 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: 2AN: 137730Hom.: 0 Cov.: 20 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 7.47e-7 AC: 1AN: 1339434Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 661632
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000145 AC: 2AN: 137730Hom.: 0 Cov.: 20 AF XY: 0.0000150 AC XY: 1AN XY: 66888
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.784A>C (p.K262Q) alteration is located in exon 2 (coding exon 1) of the ERVV-2 gene. This alteration results from a A to C substitution at nucleotide position 784, causing the lysine (K) at amino acid position 262 to be replaced by a glutamine (Q). 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