rs145673040
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_015512.5(DNAH1):āc.6191A>Gā(p.Asn2064Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0106 in 1,613,844 control chromosomes in the GnomAD database, including 172 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_015512.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.6191A>G | p.Asn2064Ser | missense_variant | 39/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.6260A>G | p.Asn2087Ser | missense_variant | 41/80 | ||
DNAH1 | XM_017006130.2 | c.6191A>G | p.Asn2064Ser | missense_variant | 40/79 | ||
DNAH1 | XM_017006131.2 | c.6260A>G | p.Asn2087Ser | missense_variant | 41/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.6191A>G | p.Asn2064Ser | missense_variant | 39/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.6452A>G | non_coding_transcript_exon_variant | 39/77 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00941 AC: 1431AN: 152072Hom.: 14 Cov.: 33
GnomAD3 exomes AF: 0.0106 AC: 2640AN: 249192Hom.: 42 AF XY: 0.0110 AC XY: 1488AN XY: 135206
GnomAD4 exome AF: 0.0107 AC: 15670AN: 1461654Hom.: 158 Cov.: 32 AF XY: 0.0106 AC XY: 7702AN XY: 727108
GnomAD4 genome ? AF: 0.00941 AC: 1432AN: 152190Hom.: 14 Cov.: 33 AF XY: 0.0111 AC XY: 826AN XY: 74420
ClinVar
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 09, 2018 | - - |
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jun 01, 2024 | DNAH1: BP4, BS1, BS2 - |
Benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Oct 03, 2023 | - - |
Spermatogenic failure 18;C4539798:Ciliary dyskinesia, primary, 37 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at