6-150800763-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001029884.3(PLEKHG1):c.674C>T(p.Ala225Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000753 in 1,461,422 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001029884.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLEKHG1 | ENST00000696526.1 | c.674C>T | p.Ala225Val | missense_variant | Exon 7 of 17 | NM_001029884.3 | ENSP00000512689.1 | |||
PLEKHG1 | ENST00000475490.1 | n.215C>T | non_coding_transcript_exon_variant | Exon 4 of 15 | 1 | ENSP00000433107.1 | ||||
PLEKHG1 | ENST00000358517.6 | c.674C>T | p.Ala225Val | missense_variant | Exon 6 of 16 | 5 | ENSP00000351318.2 | |||
PLEKHG1 | ENST00000644968.1 | c.674C>T | p.Ala225Val | missense_variant | Exon 6 of 16 | ENSP00000496254.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251474Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135910
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461422Hom.: 0 Cov.: 30 AF XY: 0.0000124 AC XY: 9AN XY: 727042
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.674C>T (p.A225V) alteration is located in exon 7 (coding exon 5) of the PLEKHG1 gene. This alteration results from a C to T substitution at nucleotide position 674, causing the alanine (A) at amino acid position 225 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