chr2-84529084-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001370.2(DNAH6):c.580C>T(p.Arg194Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000258 in 1,550,876 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R194L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001370.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH6 | NM_001370.2 | c.580C>T | p.Arg194Cys | missense_variant | 4/77 | ENST00000389394.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH6 | ENST00000389394.8 | c.580C>T | p.Arg194Cys | missense_variant | 4/77 | 5 | NM_001370.2 | P1 | |
DNAH6 | ENST00000494025.1 | n.229+11033C>T | intron_variant, non_coding_transcript_variant | 1 | |||||
DNAH6 | ENST00000468661.1 | n.454+3346C>T | intron_variant, non_coding_transcript_variant | 4 | |||||
DNAH6 | ENST00000476689.5 | n.536+3346C>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000724 AC: 11AN: 151890Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000128 AC: 2AN: 156746Hom.: 0 AF XY: 0.0000121 AC XY: 1AN XY: 82916
GnomAD4 exome AF: 0.0000207 AC: 29AN: 1398868Hom.: 0 Cov.: 33 AF XY: 0.0000217 AC XY: 15AN XY: 689950
GnomAD4 genome ? AF: 0.0000724 AC: 11AN: 152008Hom.: 0 Cov.: 31 AF XY: 0.0000807 AC XY: 6AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 04, 2023 | The c.580C>T (p.R194C) alteration is located in exon 4 (coding exon 3) of the DNAH6 gene. This alteration results from a C to T substitution at nucleotide position 580, causing the arginine (R) at amino acid position 194 to be replaced by a cysteine (C). 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