19-53049544-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001191055.2(ERVV-2):c.293G>T(p.Cys98Phe) 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 Cov.: 8
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000176 AC: 1AN: 566898Hom.: 0 Cov.: 7 AF XY: 0.00000340 AC XY: 1AN XY: 294370
GnomAD4 genome Cov.: 8
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.293G>T (p.C98F) 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 293, causing the cysteine (C) at amino acid position 98 to be replaced by a phenylalanine (F). 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