7-100220237-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001397246.1(PVRIG):āc.182A>Gā(p.Asn61Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000133 in 1,579,496 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001397246.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PVRIG | NM_001397246.1 | c.182A>G | p.Asn61Ser | missense_variant | 2/5 | ENST00000699088.1 | |
CASTOR3P | NR_028040.1 | n.913+2360T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PVRIG | ENST00000699088.1 | c.182A>G | p.Asn61Ser | missense_variant | 2/5 | NM_001397246.1 | A2 | ||
CASTOR3P | ENST00000649671.1 | n.775+3333T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 152074Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000513 AC: 10AN: 194880Hom.: 0 AF XY: 0.0000571 AC XY: 6AN XY: 105004
GnomAD4 exome AF: 0.0000105 AC: 15AN: 1427304Hom.: 0 Cov.: 52 AF XY: 0.00000849 AC XY: 6AN XY: 706924
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152192Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74392
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2024 | The c.242A>G (p.N81S) alteration is located in exon 3 (coding exon 2) of the PVRIG gene. This alteration results from a A to G substitution at nucleotide position 242, causing the asparagine (N) at amino acid position 81 to be replaced by a serine (S). 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