rs2214326
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001277115.2(DNAH11):c.10399G>A(p.Ala3467Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.366 in 1,611,438 control chromosomes in the GnomAD database, including 114,914 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001277115.2 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: 0.387 AC: 58785AN: 151738Hom.: 12156 Cov.: 31
GnomAD3 exomes AF: 0.420 AC: 103281AN: 246088Hom.: 23940 AF XY: 0.412 AC XY: 54947AN XY: 133412
GnomAD4 exome AF: 0.363 AC: 530277AN: 1459582Hom.: 102745 Cov.: 46 AF XY: 0.364 AC XY: 264150AN XY: 725854
GnomAD4 genome AF: 0.387 AC: 58840AN: 151856Hom.: 12169 Cov.: 31 AF XY: 0.395 AC XY: 29310AN XY: 74202
ClinVar
Submissions by phenotype
not specified Benign:5
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Ala3467Thr in exon 64 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 38.5% (1532/3984) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs2214326). -
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Primary ciliary dyskinesia Benign:2
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Primary ciliary dyskinesia 7 Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at