7-21561079-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6BP7BS1
The NM_001277115.2(DNAH11):āc.891A>Gā(p.Ala297=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000194 in 1,596,156 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. A297A) 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 -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.891A>G | p.Ala297= | synonymous_variant | 5/82 | ENST00000409508.8 | |
LOC105375183 | XR_007060247.1 | n.283-839T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.891A>G | p.Ala297= | synonymous_variant | 5/82 | 5 | NM_001277115.2 | P1 | |
DNAH11 | ENST00000483691.1 | n.87A>G | non_coding_transcript_exon_variant | 2/2 | 3 | ||||
DNAH11 | ENST00000496218.1 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000332 AC: 74AN: 223038Hom.: 0 AF XY: 0.000433 AC XY: 52AN XY: 119956
GnomAD4 exome AF: 0.000201 AC: 290AN: 1443874Hom.: 0 Cov.: 30 AF XY: 0.000279 AC XY: 200AN XY: 716266
GnomAD4 genome AF: 0.000125 AC: 19AN: 152282Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74460
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 09, 2017 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at