chr19-53049962-C-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.711C>A(p.His237Gln) 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: 11AN: 140576Hom.: 0 Cov.: 20 FAILED QC
GnomAD3 exomes AF: 0.00000765 AC: 1AN: 130780Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 71390
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000581 AC: 8AN: 1375836Hom.: 0 Cov.: 31 AF XY: 0.00000294 AC XY: 2AN XY: 679340
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000782 AC: 11AN: 140576Hom.: 0 Cov.: 20 AF XY: 0.0000738 AC XY: 5AN XY: 67788
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.711C>A (p.H237Q) alteration is located in exon 2 (coding exon 1) of the ERVV-2 gene. This alteration results from a C to A substitution at nucleotide position 711, causing the histidine (H) at amino acid position 237 to be replaced by a glutamine (Q). 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