rs773888732
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_003611.3(OFD1):āc.705A>Gā(p.Lys235=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000916 in 1,091,268 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_003611.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OFD1 | NM_003611.3 | c.705A>G | p.Lys235= | synonymous_variant | 8/23 | ENST00000340096.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OFD1 | ENST00000340096.11 | c.705A>G | p.Lys235= | synonymous_variant | 8/23 | 1 | NM_003611.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 22
GnomAD3 exomes AF: 0.00000557 AC: 1AN: 179668Hom.: 0 AF XY: 0.0000154 AC XY: 1AN XY: 64808
GnomAD4 exome AF: 9.16e-7 AC: 1AN: 1091268Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 357512
GnomAD4 genome ? Cov.: 22
ClinVar
Submissions by phenotype
Familial aplasia of the vermis;C1510460:Orofaciodigital syndrome I Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 23, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at