chrX-13760520-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_003611.3(OFD1):c.2060C>T(p.Pro687Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00016 in 1,168,685 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 52 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_003611.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000143 AC: 16AN: 111803Hom.: 0 Cov.: 23 AF XY: 0.000118 AC XY: 4AN XY: 33983
GnomAD3 exomes AF: 0.000300 AC: 44AN: 146704Hom.: 0 AF XY: 0.000269 AC XY: 13AN XY: 48346
GnomAD4 exome AF: 0.000162 AC: 171AN: 1056882Hom.: 0 Cov.: 31 AF XY: 0.000140 AC XY: 48AN XY: 341948
GnomAD4 genome AF: 0.000143 AC: 16AN: 111803Hom.: 0 Cov.: 23 AF XY: 0.000118 AC XY: 4AN XY: 33983
ClinVar
Submissions by phenotype
not provided Benign:3
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History of neurodevelopmental disorder Uncertain:1
There is insufficient or conflicting evidence for classification of this alteration. -
Familial aplasia of the vermis;C1510460:Orofaciodigital syndrome I Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at