NM_001206927.2:c.1549T>C
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001206927.2(DNAH8):c.1549T>C(p.Tyr517His) variant causes a missense change. The variant allele was found at a frequency of 0.141 in 1,558,360 control chromosomes in the GnomAD database, including 17,449 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001206927.2 missense
Scores
Clinical Significance
Conservation
Publications
- spermatogenic failure 46Inheritance: AR Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae), ClinGen
- spermatogenic failure 5Inheritance: AR Classification: MODERATE Submitted by: Franklin by Genoox
- primary ciliary dyskinesiaInheritance: AR Classification: NO_KNOWN Submitted by: ClinGen
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ACMG classification
Our verdict: Benign. The variant received -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.1549T>C | p.Tyr517His | missense_variant | Exon 11 of 93 | ENST00000327475.11 | NP_001193856.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.1549T>C | p.Tyr517His | missense_variant | Exon 11 of 93 | 5 | NM_001206927.2 | ENSP00000333363.7 | ||
DNAH8 | ENST00000359357.7 | c.898T>C | p.Tyr300His | missense_variant | Exon 9 of 91 | 2 | ENSP00000352312.3 | |||
DNAH8 | ENST00000449981.6 | c.1549T>C | p.Tyr517His | missense_variant | Exon 10 of 82 | 5 | ENSP00000415331.2 |
Frequencies
GnomAD3 genomes AF: 0.122 AC: 18497AN: 152122Hom.: 1376 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.130 AC: 27051AN: 207336 AF XY: 0.125 show subpopulations
GnomAD4 exome AF: 0.144 AC: 201814AN: 1406120Hom.: 16063 Cov.: 27 AF XY: 0.140 AC XY: 98181AN XY: 699940 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.122 AC: 18529AN: 152240Hom.: 1386 Cov.: 32 AF XY: 0.120 AC XY: 8929AN XY: 74430 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
Primary ciliary dyskinesia Benign:1
- -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at