19-53050260-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001191055.2(ERVV-2):c.1009G>A(p.Ala337Thr) 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 (★).
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: 10AN: 149408Hom.: 0 Cov.: 27 FAILED QC
GnomAD3 exomes AF: 0.0000328 AC: 4AN: 121784Hom.: 0 AF XY: 0.0000152 AC XY: 1AN XY: 65976
GnomAD4 exome AF: 0.0000593 AC: 39AN: 657210Hom.: 0 Cov.: 8 AF XY: 0.0000460 AC XY: 16AN XY: 347666
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000669 AC: 10AN: 149408Hom.: 0 Cov.: 27 AF XY: 0.0000412 AC XY: 3AN XY: 72770
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1009G>A (p.A337T) alteration is located in exon 2 (coding exon 1) of the ERVV-2 gene. This alteration results from a G to A substitution at nucleotide position 1009, causing the alanine (A) at amino acid position 337 to be replaced by a threonine (T). 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