rs1401531865
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM5
The NM_001001557.4(GDF6):c.876G>C(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 (★). 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