chrX-2934910-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_000047.3(ARSL):c.1692C>T(p.Asn564Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.497 in 110,155 control chromosomes in the GnomAD database, including 11,591 homozygotes. There are 16,122 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000047.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.497 AC: 54718AN: 110104Hom.: 11601 Cov.: 22 AF XY: 0.498 AC XY: 16121AN XY: 32354
GnomAD3 exomes AF: 0.624 AC: 109395AN: 175426Hom.: 23483 AF XY: 0.638 AC XY: 38868AN XY: 60920
GnomAD4 exome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.624 AC: 677668AN: 1086506Hom.: 143441 Cov.: 36 AF XY: 0.634 AC XY: 227173AN XY: 358128
GnomAD4 genome AF: 0.497 AC: 54693AN: 110155Hom.: 11591 Cov.: 22 AF XY: 0.497 AC XY: 16122AN XY: 32415
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:2
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Chondrodysplasia punctata, brachytelephalangic, autosomal Benign:1
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X-linked chondrodysplasia punctata 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at