rs2740348
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_015721.3(GEMIN4):āc.1348C>Gā(p.Gln450Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.835 in 1,613,310 control chromosomes in the GnomAD database, including 563,156 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_015721.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GEMIN4 | NM_015721.3 | c.1348C>G | p.Gln450Glu | missense_variant | 2/2 | ENST00000319004.6 | NP_056536.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GEMIN4 | ENST00000319004.6 | c.1348C>G | p.Gln450Glu | missense_variant | 2/2 | 1 | NM_015721.3 | ENSP00000321706 | P1 | |
GEMIN4 | ENST00000576778.1 | c.1315C>G | p.Gln439Glu | missense_variant | 1/1 | ENSP00000459565 | ||||
GEMIN4 | ENST00000437269.1 | c.*531C>G | 3_prime_UTR_variant | 3/3 | 2 | ENSP00000392460 |
Frequencies
GnomAD3 genomes AF: 0.866 AC: 131644AN: 151984Hom.: 57279 Cov.: 30
GnomAD3 exomes AF: 0.847 AC: 210894AN: 249042Hom.: 89606 AF XY: 0.848 AC XY: 114600AN XY: 135176
GnomAD4 exome AF: 0.831 AC: 1214542AN: 1461208Hom.: 505815 Cov.: 72 AF XY: 0.832 AC XY: 604843AN XY: 726898
GnomAD4 genome AF: 0.866 AC: 131767AN: 152102Hom.: 57341 Cov.: 30 AF XY: 0.866 AC XY: 64417AN XY: 74348
ClinVar
Submissions by phenotype
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 14, 2021 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at