rs2072221
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001277115.2(DNAH11):c.7626G>A(p.Thr2542Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.855 in 1,610,410 control chromosomes in the GnomAD database, including 592,010 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. T2542T) has been classified as Likely benign.
Frequency
Consequence
NM_001277115.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.7626G>A | p.Thr2542Thr | synonymous_variant | Exon 46 of 82 | 5 | NM_001277115.2 | ENSP00000475939.1 | ||
DNAH11 | ENST00000605912.1 | c.186G>A | p.Thr62Thr | synonymous_variant | Exon 1 of 4 | 3 | ENSP00000476068.1 |
Frequencies
GnomAD3 genomes AF: 0.833 AC: 126621AN: 152026Hom.: 53154 Cov.: 32
GnomAD3 exomes AF: 0.825 AC: 204412AN: 247696Hom.: 85552 AF XY: 0.827 AC XY: 111030AN XY: 134334
GnomAD4 exome AF: 0.857 AC: 1250264AN: 1458266Hom.: 538838 Cov.: 47 AF XY: 0.856 AC XY: 620240AN XY: 724930
GnomAD4 genome AF: 0.833 AC: 126695AN: 152144Hom.: 53172 Cov.: 32 AF XY: 0.832 AC XY: 61855AN XY: 74360
ClinVar
Submissions by phenotype
not specified Benign:4
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Thr2542Thr in exon 46 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 15.2% (589/3870) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2072221). -
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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