rs9869985
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000388.4(CASR):c.492+19G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.952 in 1,604,058 control chromosomes in the GnomAD database, including 728,269 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000388.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.918 AC: 139564AN: 152094Hom.: 64374 Cov.: 31
GnomAD3 exomes AF: 0.949 AC: 235703AN: 248316Hom.: 112074 AF XY: 0.951 AC XY: 128020AN XY: 134620
GnomAD4 exome AF: 0.956 AC: 1387778AN: 1451846Hom.: 663856 Cov.: 28 AF XY: 0.956 AC XY: 690837AN XY: 722642
GnomAD4 genome AF: 0.918 AC: 139661AN: 152212Hom.: 64413 Cov.: 31 AF XY: 0.919 AC XY: 68371AN XY: 74426
ClinVar
Submissions by phenotype
not specified Benign:6
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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not provided Benign:2
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Autosomal dominant hypocalcemia 1 Benign:1
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Familial hypocalciuric hypercalcemia 1 Benign:1
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Neonatal severe primary hyperparathyroidism Benign:1
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Autosomal dominant hypocalcemia 1;C1809471:Familial hypocalciuric hypercalcemia Benign:1
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Familial hypocalciuric hypercalcemia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at