chr5-37048525-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP2
The NM_133433.4(NIPBL):c.6613A>T(p.Ser2205Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000014 in 1,431,790 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. S2205G) has been classified as Likely benign.
Frequency
Consequence
NM_133433.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NIPBL | NM_133433.4 | c.6613A>T | p.Ser2205Cys | missense_variant | 39/47 | ENST00000282516.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NIPBL | ENST00000282516.13 | c.6613A>T | p.Ser2205Cys | missense_variant | 39/47 | 1 | NM_133433.4 | P1 | |
NIPBL | ENST00000448238.2 | c.6613A>T | p.Ser2205Cys | missense_variant | 39/46 | 1 | |||
NIPBL | ENST00000652901.1 | c.6613A>T | p.Ser2205Cys | missense_variant | 39/46 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000829 AC: 2AN: 241258Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 130882
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1431790Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 711130
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at