chr6-38853315-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001206927.2(DNAH8):c.5701C>T(p.Leu1901Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000945 in 1,613,488 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L1901P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001206927.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.5701C>T | p.Leu1901Phe | missense_variant | 41/93 | ENST00000327475.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.5701C>T | p.Leu1901Phe | missense_variant | 41/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000359357.7 | c.5050C>T | p.Leu1684Phe | missense_variant | 39/91 | 2 | A2 | ||
DNAH8 | ENST00000449981.6 | c.5701C>T | p.Leu1901Phe | missense_variant | 40/82 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00484 AC: 737AN: 152212Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00135 AC: 337AN: 250236Hom.: 3 AF XY: 0.00101 AC XY: 136AN XY: 135272
GnomAD4 exome AF: 0.000536 AC: 783AN: 1461158Hom.: 8 Cov.: 31 AF XY: 0.000487 AC XY: 354AN XY: 726878
GnomAD4 genome AF: 0.00486 AC: 741AN: 152330Hom.: 4 Cov.: 32 AF XY: 0.00474 AC XY: 353AN XY: 74488
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 13, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at