chr10-101775182-T-TCCCTGCCCAGCGCAGGGC
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM4BP6BS1BS2
The NM_033163.5(FGF8):c.86_103dupGCCCTGCGCTGGGCAGGG(p.Gly29_Arg34dup) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00265 in 1,548,090 control chromosomes in the GnomAD database, including 13 homozygotes. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_033163.5 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00170 AC: 259AN: 152136Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00132 AC: 196AN: 148156Hom.: 1 AF XY: 0.00143 AC XY: 114AN XY: 79872
GnomAD4 exome AF: 0.00275 AC: 3845AN: 1395836Hom.: 13 Cov.: 32 AF XY: 0.00272 AC XY: 1870AN XY: 688444
GnomAD4 genome AF: 0.00170 AC: 259AN: 152254Hom.: 0 Cov.: 31 AF XY: 0.00145 AC XY: 108AN XY: 74454
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:2
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In-frame insertion of 6 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 25131394, 26857713) -
Holoprosencephaly sequence Uncertain:1
While absent from public databases, this may be due to technical issues. At least 3 un-related probands (and one transmitting healthy parent) are positive for this missense change. Experimentally normal with ACMG criteria: BS3;PM2. No predictions for indel effects are given. -
FGF8-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). -
Hypogonadotropic hypogonadism 6 with or without anosmia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at