NM_001378090.1:c.1030G>A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_001378090.1(WASHC1):c.1030G>A(p.Ala344Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 9/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001378090.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WASHC1 | NM_001378090.1 | c.1030G>A | p.Ala344Thr | missense_variant | Exon 8 of 11 | ENST00000696149.1 | NP_001365019.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 149AN: 10944Hom.: 0 Cov.: 2 FAILED QC
GnomAD3 exomes AF: 0.00123 AC: 45AN: 36572Hom.: 3 AF XY: 0.00134 AC XY: 25AN XY: 18622
GnomAD4 exome AF: 0.0234 AC: 5808AN: 248720Hom.: 749 Cov.: 0 AF XY: 0.0219 AC XY: 2907AN XY: 132778
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0134 AC: 147AN: 10938Hom.: 0 Cov.: 2 AF XY: 0.0146 AC XY: 65AN XY: 4464
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1030G>A (p.A344T) alteration is located in exon 8 (coding exon 7) of the WASH1 gene. This alteration results from a G to A substitution at nucleotide position 1030, causing the alanine (A) at amino acid position 344 to be replaced by a threonine (T). 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