rs377076154
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001164507.2(NEB):āc.18115G>Cā(p.Asp6039His) variant causes a missense change. The variant allele was found at a frequency of 0.0000151 in 1,460,022 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. D6039N) has been classified as Likely benign.
Frequency
Consequence
NM_001164507.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.18115G>C | p.Asp6039His | missense_variant | 114/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.18115G>C | p.Asp6039His | missense_variant | 114/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.18115G>C | p.Asp6039His | missense_variant | 114/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.18115G>C | p.Asp6039His | missense_variant | 114/182 | 5 | NM_001164507.2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1460022Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 726090
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at