chr10-101770422-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_033163.5(FGF8):c.642C>T(p.Thr214Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000427 in 1,608,486 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_033163.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00198 AC: 301AN: 152226Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000663 AC: 156AN: 235256Hom.: 1 AF XY: 0.000509 AC XY: 65AN XY: 127792
GnomAD4 exome AF: 0.000262 AC: 382AN: 1456142Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 156AN XY: 724068
GnomAD4 genome AF: 0.00200 AC: 305AN: 152344Hom.: 0 Cov.: 33 AF XY: 0.00199 AC XY: 148AN XY: 74504
ClinVar
Submissions by phenotype
not provided Benign:3
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FGF8: BP4, BP7 -
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not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
FGF8-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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at