7-100359498-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_178238.4(PILRB):āc.616C>Gā(p.Leu206Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000206 in 1,610,508 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_178238.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PILRB | NM_178238.4 | c.616C>G | p.Leu206Val | missense_variant | 3/4 | ENST00000609309.3 | |
STAG3L5P-PVRIG2P-PILRB | NR_036570.1 | n.2485C>G | non_coding_transcript_exon_variant | 16/17 | |||
PILRB | NM_001371931.2 | c.616C>G | p.Leu206Val | missense_variant | 3/5 | ||
STAG3L5P-PVRIG2P-PILRB | NR_036569.1 | n.3161C>G | non_coding_transcript_exon_variant | 17/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PILRB | ENST00000609309.3 | c.616C>G | p.Leu206Val | missense_variant | 3/4 | 1 | NM_178238.4 | P1 | |
PILRB | ENST00000448382.5 | c.773C>G | p.Thr258Ser | missense_variant | 8/9 | 2 | |||
PILRB | ENST00000452089.5 | c.616C>G | p.Leu206Val | missense_variant | 8/9 | 2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000451 AC: 67AN: 148542Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000224 AC: 56AN: 250506Hom.: 1 AF XY: 0.000199 AC XY: 27AN XY: 135696
GnomAD4 exome AF: 0.000181 AC: 264AN: 1461858Hom.: 2 Cov.: 33 AF XY: 0.000191 AC XY: 139AN XY: 727232
GnomAD4 genome AF: 0.000451 AC: 67AN: 148650Hom.: 0 Cov.: 32 AF XY: 0.000551 AC XY: 40AN XY: 72602
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.616C>G (p.L206V) alteration is located in exon 3 (coding exon 3) of the PILRB gene. This alteration results from a C to G substitution at nucleotide position 616, causing the leucine (L) at amino acid position 206 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