chr2-84529129-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.625C>T(p.Pro209Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000129 in 1,549,282 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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.625C>T | p.Pro209Ser | missense_variant | 4/77 | ENST00000389394.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH6 | ENST00000389394.8 | c.625C>T | p.Pro209Ser | missense_variant | 4/77 | 5 | NM_001370.2 | P1 | |
DNAH6 | ENST00000494025.1 | n.229+11078C>T | intron_variant, non_coding_transcript_variant | 1 | |||||
DNAH6 | ENST00000468661.1 | n.454+3391C>T | intron_variant, non_coding_transcript_variant | 4 | |||||
DNAH6 | ENST00000476689.5 | n.536+3391C>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000856 AC: 13AN: 151816Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000644 AC: 1AN: 155314Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82294
GnomAD4 exome AF: 0.00000501 AC: 7AN: 1397466Hom.: 0 Cov.: 33 AF XY: 0.00000290 AC XY: 2AN XY: 689328
GnomAD4 genome AF: 0.0000856 AC: 13AN: 151816Hom.: 0 Cov.: 31 AF XY: 0.0000405 AC XY: 3AN XY: 74116
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 27, 2023 | The c.625C>T (p.P209S) 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 625, causing the proline (P) at amino acid position 209 to be replaced by a serine (S). 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