rs189175047
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_001277115.2(DNAH11):c.1108C>A(p.Leu370Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000415 in 1,613,636 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 Benign (★). Synonymous variant affecting the same amino acid position (i.e. L370L) has been classified as Likely benign.
Frequency
Consequence
NM_001277115.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.1108C>A | p.Leu370Met | missense_variant | 6/82 | ENST00000409508.8 | |
LOC105375183 | XR_007060247.1 | n.283-4071G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.1108C>A | p.Leu370Met | missense_variant | 6/82 | 5 | NM_001277115.2 | P1 | |
DNAH11 | ENST00000496218.1 | n.80+3141C>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248742Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134928
GnomAD4 exome AF: 0.0000438 AC: 64AN: 1461374Hom.: 0 Cov.: 32 AF XY: 0.0000468 AC XY: 34AN XY: 726948
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152262Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74456
ClinVar
Submissions by phenotype
Infertility disorder Uncertain:1
Uncertain significance, no assertion criteria provided | provider interpretation | MAGI's Lab - Research, MAGI Group | - | - - |
Primary ciliary dyskinesia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 28, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at