rs777969701
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001164507.2(NEB):c.16790C>T(p.Ala5597Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,626 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A5597G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001164507.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.16790C>T | p.Ala5597Val | missense_variant | 106/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.16790C>T | p.Ala5597Val | missense_variant | 106/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.16790C>T | p.Ala5597Val | missense_variant | 106/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.16790C>T | p.Ala5597Val | missense_variant | 106/182 | 5 | NM_001164507.2 | A2 | |
NEB | ENST00000409198.5 | c.11687C>T | p.Ala3896Val | missense_variant | 79/150 | 5 | |||
NEB | ENST00000413693.5 | c.980C>T | p.Ala327Val | missense_variant | 6/74 | 5 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459626Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726140
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at