rs1401531865
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM5
The NM_001001557.4(GDF6):āc.876G>Cā(p.Glu292Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000872 in 1,490,334 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Benign (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E292?) has been classified as Pathogenic.
Frequency
Consequence
NM_001001557.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GDF6 | NM_001001557.4 | c.876G>C | p.Glu292Asp | missense_variant | 2/2 | ENST00000287020.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GDF6 | ENST00000287020.7 | c.876G>C | p.Glu292Asp | missense_variant | 2/2 | 1 | NM_001001557.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151794Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000228 AC: 3AN: 131544Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 75280
GnomAD4 exome AF: 0.00000896 AC: 12AN: 1338540Hom.: 0 Cov.: 31 AF XY: 0.00000907 AC XY: 6AN XY: 661812
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151794Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74136
ClinVar
Submissions by phenotype
Klippel-Feil syndrome 1, autosomal dominant;C2751307:Isolated microphthalmia 4;C3150968:Microphthalmia, isolated, with coloboma 6;C3715164:Leber congenital amaurosis 17 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 11, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at