chr10-116125236-G-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_005264.8(GFRA1):c.755C>T(p.Thr252Met) variant causes a missense change. The variant allele was found at a frequency of 0.000393 in 1,613,496 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_005264.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00185 AC: 281AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000514 AC: 129AN: 251058Hom.: 0 AF XY: 0.000383 AC XY: 52AN XY: 135728
GnomAD4 exome AF: 0.000240 AC: 351AN: 1461196Hom.: 1 Cov.: 32 AF XY: 0.000227 AC XY: 165AN XY: 726952
GnomAD4 genome AF: 0.00186 AC: 283AN: 152300Hom.: 0 Cov.: 33 AF XY: 0.00181 AC XY: 135AN XY: 74460
ClinVar
Submissions by phenotype
GFRA1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at