rs200603138
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 2P and 17B. PM2BP4_StrongBP6_Very_StrongBP7BS1
The NM_001277115.2(DNAH11):āc.10350C>Gā(p.Thr3450=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000261 in 1,607,444 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. T3450T) 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 -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.10350C>G | p.Thr3450= | synonymous_variant | 64/82 | ENST00000409508.8 | |
LOC124901599 | XR_007060248.1 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.10350C>G | p.Thr3450= | synonymous_variant | 64/82 | 5 | NM_001277115.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00143 AC: 218AN: 152054Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000322 AC: 77AN: 239212Hom.: 0 AF XY: 0.000294 AC XY: 38AN XY: 129276
GnomAD4 exome AF: 0.000139 AC: 202AN: 1455272Hom.: 1 Cov.: 30 AF XY: 0.000131 AC XY: 95AN XY: 723030
GnomAD4 genome AF: 0.00143 AC: 217AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.00134 AC XY: 100AN XY: 74376
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 11, 2022 | 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