rs781665189
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6_Very_StrongBP7
The NM_003611.3(OFD1):āc.675C>Gā(p.Thr225=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000923 in 1,191,820 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. T225T) has been classified as Uncertain significance.
Frequency
Consequence
NM_003611.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OFD1 | NM_003611.3 | c.675C>G | p.Thr225= | synonymous_variant | 8/23 | ENST00000340096.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OFD1 | ENST00000340096.11 | c.675C>G | p.Thr225= | synonymous_variant | 8/23 | 1 | NM_003611.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000919 AC: 1AN: 108809Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 31631
GnomAD3 exomes AF: 0.0000560 AC: 10AN: 178521Hom.: 0 AF XY: 0.0000155 AC XY: 1AN XY: 64369
GnomAD4 exome AF: 0.00000923 AC: 10AN: 1083011Hom.: 0 Cov.: 28 AF XY: 0.00000285 AC XY: 1AN XY: 350923
GnomAD4 genome AF: 0.00000919 AC: 1AN: 108809Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 31631
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Familial aplasia of the vermis;C1510460:Orofaciodigital syndrome I Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 27, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at