rs1430402297
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001191055.2(ERVV-2):āc.521A>Gā(p.Tyr174Cys) 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 -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 3AN: 145316Hom.: 0 Cov.: 18 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000580 AC: 80AN: 1379308Hom.: 0 Cov.: 29 AF XY: 0.0000396 AC XY: 27AN XY: 680992
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000206 AC: 3AN: 145316Hom.: 0 Cov.: 18 AF XY: 0.0000285 AC XY: 2AN XY: 70298
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.521A>G (p.Y174C) alteration is located in exon 2 (coding exon 1) of the ERVV-2 gene. This alteration results from a A to G substitution at nucleotide position 521, causing the tyrosine (Y) at amino acid position 174 to be replaced by a cysteine (C). 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