rs912925536
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001191055.2(ERVV-2):c.9G>T(p.Glu3Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 10/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001191055.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 2AN: 141222Hom.: 0 Cov.: 18 FAILED QC
GnomAD3 exomes AF: 0.0000269 AC: 2AN: 74334Hom.: 0 AF XY: 0.0000521 AC XY: 2AN XY: 38384
GnomAD4 exome AF: 0.0000260 AC: 17AN: 654262Hom.: 0 Cov.: 8 AF XY: 0.0000294 AC XY: 10AN XY: 340292
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000142 AC: 2AN: 141222Hom.: 0 Cov.: 18 AF XY: 0.00 AC XY: 0AN XY: 68290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.9G>T (p.E3D) alteration is located in exon 2 (coding exon 1) of the ERVV-2 gene. This alteration results from a G to T substitution at nucleotide position 9, causing the glutamic acid (E) at amino acid position 3 to be replaced by an aspartic acid (D). 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