7-29884126-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001080529.3(WIPF3):āc.632A>Gā(p.Asn211Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000733 in 1,364,474 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N211T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001080529.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WIPF3 | NM_001080529.3 | c.632A>G | p.Asn211Ser | missense_variant | 5/9 | ENST00000242140.10 | |
WIPF3 | NM_001391973.1 | c.632A>G | p.Asn211Ser | missense_variant | 5/8 | ||
WIPF3 | XM_017012522.2 | c.599A>G | p.Asn200Ser | missense_variant | 4/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WIPF3 | ENST00000242140.10 | c.632A>G | p.Asn211Ser | missense_variant | 5/9 | 5 | NM_001080529.3 | P5 | |
WIPF3 | ENST00000409123.5 | c.632A>G | p.Asn211Ser | missense_variant | 5/8 | 5 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 116538Hom.: 0 Cov.: 21 FAILED QC
GnomAD4 exome AF: 7.33e-7 AC: 1AN: 1364474Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 670946
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 116538Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 56824
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.