X-74741762-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6_ModerateBS2
The NM_001008537.3(NEXMIF):c.2795C>G(p.Thr932Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000031 in 1,097,781 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 9 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001008537.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NEXMIF | ENST00000055682.12 | c.2795C>G | p.Thr932Arg | missense_variant | Exon 3 of 4 | 1 | NM_001008537.3 | ENSP00000055682.5 | ||
NEXMIF | ENST00000616200.2 | c.2795C>G | p.Thr932Arg | missense_variant | Exon 3 of 5 | 1 | ENSP00000480284.1 | |||
NEXMIF | ENST00000642681.2 | c.2795C>G | p.Thr932Arg | missense_variant | Exon 3 of 3 | ENSP00000495800.1 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD3 exomes AF: 0.0000327 AC: 6AN: 183251Hom.: 0 AF XY: 0.0000590 AC XY: 4AN XY: 67767
GnomAD4 exome AF: 0.0000310 AC: 34AN: 1097781Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 9AN XY: 363155
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at