rs11264875
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000368559.8(NUP210L):c.4471G>A(p.Val1491Ile) variant causes a missense change. The variant allele was found at a frequency of 0.29 in 1,613,150 control chromosomes in the GnomAD database, including 69,763 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000368559.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NUP210L | NM_207308.3 | c.4471G>A | p.Val1491Ile | missense_variant | 32/40 | ENST00000368559.8 | |
NUP210L | XM_011510122.2 | c.4339G>A | p.Val1447Ile | missense_variant | 31/39 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NUP210L | ENST00000368559.8 | c.4471G>A | p.Val1491Ile | missense_variant | 32/40 | 5 | NM_207308.3 | P2 | |
NUP210L | ENST00000368553.5 | c.1270G>A | p.Val424Ile | missense_variant | 10/16 | 1 | A2 | ||
NUP210L | ENST00000271854.3 | c.4471G>A | p.Val1491Ile | missense_variant | 32/38 | 5 | A2 |
Frequencies
GnomAD3 genomes AF: 0.267 AC: 40581AN: 151738Hom.: 5782 Cov.: 31
GnomAD3 exomes AF: 0.313 AC: 77990AN: 249556Hom.: 12819 AF XY: 0.313 AC XY: 42370AN XY: 135392
GnomAD4 exome AF: 0.293 AC: 427766AN: 1461294Hom.: 63973 Cov.: 36 AF XY: 0.295 AC XY: 214230AN XY: 726988
GnomAD4 genome AF: 0.267 AC: 40620AN: 151856Hom.: 5790 Cov.: 31 AF XY: 0.273 AC XY: 20235AN XY: 74164
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at