NM_032968.5:c.2279A>T
Variant summary
Our verdict is Benign. The variant received -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_032968.5(PCDH11X):c.2279A>T(p.Asp760Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000207 in 1,208,168 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 8 hemizygotes in GnomAD. 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 Likely benign (no stars).
Frequency
Consequence
NM_032968.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000273 AC: 3AN: 110079Hom.: 0 Cov.: 21 show subpopulations
GnomAD2 exomes AF: 0.0000164 AC: 3AN: 183173 AF XY: 0.0000148 show subpopulations
GnomAD4 exome AF: 0.0000200 AC: 22AN: 1098089Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 7AN XY: 363563 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000273 AC: 3AN: 110079Hom.: 0 Cov.: 21 AF XY: 0.0000310 AC XY: 1AN XY: 32281 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
Alzheimer disease Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at