chr7-135571113-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015135.3(NUP205):āc.37C>Gā(p.Leu13Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000386 in 1,552,924 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_015135.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NUP205 | NM_015135.3 | c.37C>G | p.Leu13Val | missense_variant | 2/43 | ENST00000285968.11 | |
NUP205 | NM_001329434.2 | c.-1049C>G | 5_prime_UTR_variant | 2/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NUP205 | ENST00000285968.11 | c.37C>G | p.Leu13Val | missense_variant | 2/43 | 1 | NM_015135.3 | P1 | |
NUP205 | ENST00000489493.1 | n.292C>G | non_coding_transcript_exon_variant | 2/3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000668 AC: 1AN: 149604Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.00000356 AC: 5AN: 1403320Hom.: 0 Cov.: 29 AF XY: 0.00000573 AC XY: 4AN XY: 698536
GnomAD4 genome AF: 0.00000668 AC: 1AN: 149604Hom.: 0 Cov.: 29 AF XY: 0.0000137 AC XY: 1AN XY: 72892
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 14, 2022 | The c.37C>G (p.L13V) alteration is located in exon 2 (coding exon 2) of the NUP205 gene. This alteration results from a C to G substitution at nucleotide position 37, causing the leucine (L) at amino acid position 13 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at