rs7817227
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001010906.2(NUGGC):c.983A>T(p.Gln328Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q328R) has been classified as Likely benign.
Frequency
Consequence
NM_001010906.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NUGGC | NM_001010906.2 | c.983A>T | p.Gln328Leu | missense_variant | 8/19 | ENST00000413272.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NUGGC | ENST00000413272.7 | c.983A>T | p.Gln328Leu | missense_variant | 8/19 | 5 | NM_001010906.2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248906Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135040
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000205 AC: 3AN: 1461522Hom.: 0 Cov.: 47 AF XY: 0.00000275 AC XY: 2AN XY: 727036
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at