19-53049702-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001191055.2(ERVV-2):āc.451A>Gā(p.Met151Val) 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: 4AN: 102090Hom.: 0 Cov.: 13 FAILED QC
GnomAD3 exomes AF: 0.0000243 AC: 3AN: 123226Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67054
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000389 AC: 46AN: 1182572Hom.: 0 Cov.: 17 AF XY: 0.0000405 AC XY: 24AN XY: 592400
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000392 AC: 4AN: 102090Hom.: 0 Cov.: 13 AF XY: 0.00 AC XY: 0AN XY: 47522
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.451A>G (p.M151V) 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 451, causing the methionine (M) at amino acid position 151 to be replaced by a valine (V). 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