2-84517987-G-C
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_001370.2(DNAH6):āc.161G>Cā(p.Arg54Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,044 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001370.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH6 | NM_001370.2 | c.161G>C | p.Arg54Thr | missense_variant | 2/77 | ENST00000389394.8 | NP_001361.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH6 | ENST00000389394.8 | c.161G>C | p.Arg54Thr | missense_variant | 2/77 | 5 | NM_001370.2 | ENSP00000374045.3 | ||
DNAH6 | ENST00000494025.1 | n.165G>C | non_coding_transcript_exon_variant | 1/9 | 1 | |||||
DNAH6 | ENST00000468661.1 | n.216G>C | non_coding_transcript_exon_variant | 2/4 | 4 | |||||
DNAH6 | ENST00000476689.5 | n.298G>C | non_coding_transcript_exon_variant | 2/11 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152044Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152044Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74266
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 23, 2024 | The c.161G>C (p.R54T) alteration is located in exon 2 (coding exon 1) of the DNAH6 gene. This alteration results from a G to C substitution at nucleotide position 161, causing the arginine (R) at amino acid position 54 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at