chr2-20667543-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_182828.4(GDF7):āc.304A>Gā(p.Arg102Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000391 in 1,458,990 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_182828.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GDF7 | NM_182828.4 | c.304A>G | p.Arg102Gly | missense_variant | 1/2 | ENST00000272224.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GDF7 | ENST00000272224.5 | c.304A>G | p.Arg102Gly | missense_variant | 1/2 | 1 | NM_182828.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000293 AC: 44AN: 150398Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.00116 AC: 122AN: 104794Hom.: 4 AF XY: 0.00139 AC XY: 85AN XY: 61124
GnomAD4 exome AF: 0.000402 AC: 526AN: 1308482Hom.: 10 Cov.: 29 AF XY: 0.000543 AC XY: 352AN XY: 647926
GnomAD4 genome AF: 0.000292 AC: 44AN: 150508Hom.: 0 Cov.: 30 AF XY: 0.000462 AC XY: 34AN XY: 73546
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Apr 01, 2023 | GDF7: BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at