rs61742545
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001008537.3(NEXMIF):c.2373A>G(p.Thr791=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000107 in 1,209,843 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. T791T) has been classified as Likely benign.
Frequency
Consequence
NM_001008537.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEXMIF | NM_001008537.3 | c.2373A>G | p.Thr791= | synonymous_variant | 3/4 | ENST00000055682.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEXMIF | ENST00000055682.12 | c.2373A>G | p.Thr791= | synonymous_variant | 3/4 | 1 | NM_001008537.3 | P1 | |
NEXMIF | ENST00000616200.2 | c.2373A>G | p.Thr791= | synonymous_variant | 3/5 | 1 | P1 | ||
NEXMIF | ENST00000642681.2 | c.2373A>G | p.Thr791= | synonymous_variant | 3/3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000894 AC: 1AN: 111836Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33998
GnomAD3 exomes AF: 0.0000218 AC: 4AN: 183181Hom.: 0 AF XY: 0.0000295 AC XY: 2AN XY: 67701
GnomAD4 exome AF: 0.0000109 AC: 12AN: 1098007Hom.: 0 Cov.: 31 AF XY: 0.00000826 AC XY: 3AN XY: 363387
GnomAD4 genome ? AF: 0.00000894 AC: 1AN: 111836Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33998
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Dec 01, 2023 | NEXMIF: BP4, BP7 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at