16-70981426-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001270974.2(HYDIN):c.4475C>A(p.Pro1492His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.357 in 1,612,908 control chromosomes in the GnomAD database, including 108,409 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001270974.2 missense
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: 0.392 AC: 59384AN: 151604Hom.: 12210 Cov.: 29
GnomAD3 exomes AF: 0.415 AC: 102952AN: 248302Hom.: 23178 AF XY: 0.408 AC XY: 54928AN XY: 134702
GnomAD4 exome AF: 0.354 AC: 516692AN: 1461182Hom.: 96178 Cov.: 37 AF XY: 0.356 AC XY: 259088AN XY: 726860
GnomAD4 genome AF: 0.392 AC: 59441AN: 151726Hom.: 12231 Cov.: 29 AF XY: 0.396 AC XY: 29333AN XY: 74150
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
- -
Primary ciliary dyskinesia 5 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at