chr19-4792690-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_018708.3(FEM1A):āc.836A>Gā(p.Glu279Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000577 in 1,612,154 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_018708.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FEM1A | NM_018708.3 | c.836A>G | p.Glu279Gly | missense_variant | 1/1 | ENST00000269856.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FEM1A | ENST00000269856.5 | c.836A>G | p.Glu279Gly | missense_variant | 1/1 | NM_018708.3 | P1 | ||
ENST00000601192.1 | n.2866T>C | non_coding_transcript_exon_variant | 1/2 | 4 |
Frequencies
GnomAD3 genomes AF: 0.000243 AC: 37AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 250822Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135688
GnomAD4 exome AF: 0.0000384 AC: 56AN: 1459842Hom.: 2 Cov.: 31 AF XY: 0.0000386 AC XY: 28AN XY: 726242
GnomAD4 genome AF: 0.000243 AC: 37AN: 152312Hom.: 0 Cov.: 33 AF XY: 0.000175 AC XY: 13AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 07, 2021 | The c.836A>G (p.E279G) alteration is located in exon 1 (coding exon 1) of the FEM1A gene. This alteration results from a A to G substitution at nucleotide position 836, causing the glutamic acid (E) at amino acid position 279 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at