7-21784504-G-A
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_001277115.2(DNAH11):c.9561G>A(p.Leu3187Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.14 in 1,612,302 control chromosomes in the GnomAD database, including 16,565 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001277115.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.147 AC: 22342AN: 152066Hom.: 1759 Cov.: 33
GnomAD3 exomes AF: 0.124 AC: 30769AN: 247318Hom.: 2102 AF XY: 0.126 AC XY: 16894AN XY: 134150
GnomAD4 exome AF: 0.139 AC: 203401AN: 1460118Hom.: 14802 Cov.: 31 AF XY: 0.139 AC XY: 100991AN XY: 726254
GnomAD4 genome AF: 0.147 AC: 22353AN: 152184Hom.: 1763 Cov.: 33 AF XY: 0.143 AC XY: 10657AN XY: 74404
ClinVar
Submissions by phenotype
not specified Benign:2
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Leu3187Leu in exon 58 of DNAH11: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 17.7% (695/3924) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs6965750). -
Primary ciliary dyskinesia Benign:2
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not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at