rs1557007136
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_000377.3(WAS):āc.985C>Gā(p.Pro329Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000934 in 1,070,486 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. Variant has been reported in ClinVar as Likely benign (ā ). Synonymous variant affecting the same amino acid position (i.e. P329P) has been classified as Likely benign.
Frequency
Consequence
NM_000377.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
WAS | NM_000377.3 | c.985C>G | p.Pro329Ala | missense_variant | 10/12 | ENST00000376701.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
WAS | ENST00000376701.5 | c.985C>G | p.Pro329Ala | missense_variant | 10/12 | 1 | NM_000377.3 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 22
GnomAD3 exomes AF: 0.00000673 AC: 1AN: 148596Hom.: 0 AF XY: 0.0000209 AC XY: 1AN XY: 47746
GnomAD4 exome AF: 9.34e-7 AC: 1AN: 1070486Hom.: 0 Cov.: 33 AF XY: 0.00000289 AC XY: 1AN XY: 345450
GnomAD4 genome ? Cov.: 22
ClinVar
Submissions by phenotype
Wiskott-Aldrich syndrome;C1839163:Thrombocytopenia 1;C1845987:X-linked severe congenital neutropenia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 10, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at