rs17880170
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001178134.2(CXCL12):c.420G>T(p.Val140Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00596 in 1,598,366 control chromosomes in the GnomAD database, including 46 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001178134.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00516 AC: 785AN: 152224Hom.: 6 Cov.: 33
GnomAD3 exomes AF: 0.00557 AC: 1288AN: 231434Hom.: 12 AF XY: 0.00541 AC XY: 691AN XY: 127738
GnomAD4 exome AF: 0.00605 AC: 8748AN: 1446024Hom.: 40 Cov.: 32 AF XY: 0.00595 AC XY: 4282AN XY: 719716
GnomAD4 genome AF: 0.00515 AC: 784AN: 152342Hom.: 6 Cov.: 33 AF XY: 0.00486 AC XY: 362AN XY: 74494
ClinVar
Submissions by phenotype
CXCL12-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
CXCL12: BP4, BP7, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at