1-207475111-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001006658.3(CR2):c.2611G>T(p.Val871Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00493 in 1,612,780 control chromosomes in the GnomAD database, including 32 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. V871V) has been classified as Likely benign.
Frequency
Consequence
NM_001006658.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00329 AC: 501AN: 152162Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00334 AC: 834AN: 249514Hom.: 4 AF XY: 0.00355 AC XY: 478AN XY: 134816
GnomAD4 exome AF: 0.00510 AC: 7447AN: 1460500Hom.: 30 Cov.: 32 AF XY: 0.00514 AC XY: 3731AN XY: 726466
GnomAD4 genome AF: 0.00330 AC: 503AN: 152280Hom.: 2 Cov.: 32 AF XY: 0.00313 AC XY: 233AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:5
CR2: BP4, BS2 -
- -
- -
- -
- -
Immunodeficiency, common variable, 7 Benign:2
- -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at