7-21702774-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_001277115.2(DNAH11):āc.6245G>Cā(p.Arg2082Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000018 in 1,613,384 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001277115.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000443 AC: 11AN: 248426Hom.: 0 AF XY: 0.0000668 AC XY: 9AN XY: 134756
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461146Hom.: 0 Cov.: 30 AF XY: 0.0000248 AC XY: 18AN XY: 726808
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74442
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1Benign:1
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The p.R2082P variant (also known as c.6245G>C), located in coding exon 37 of the DNAH11 gene, results from a G to C substitution at nucleotide position 6245. The arginine at codon 2082 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
DNAH11-related disorder Uncertain:1
The DNAH11 c.6245G>C variant is predicted to result in the amino acid substitution p.Arg2082Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-21742392-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at