chr3-57301764-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001366028.2(DNAH12):c.11365G>A(p.Asp3789Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000252 in 1,549,968 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001366028.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH12 | NM_001366028.2 | c.11365G>A | p.Asp3789Asn | missense_variant | Exon 70 of 74 | ENST00000495027.6 | NP_001352957.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH12 | ENST00000495027.6 | c.11365G>A | p.Asp3789Asn | missense_variant | Exon 70 of 74 | 5 | NM_001366028.2 | ENSP00000418137.2 | ||
DNAH12 | ENST00000351747.6 | c.8761G>A | p.Asp2921Asn | missense_variant | Exon 55 of 59 | 5 | ENSP00000295937.3 | |||
DNAH12 | ENST00000466540.2 | c.1702G>A | p.Asp568Asn | missense_variant | Exon 11 of 15 | 5 | ENSP00000420359.2 | |||
DNAH12 | ENST00000494758.5 | n.96-4780G>A | intron_variant | Intron 1 of 4 | 2 | ENSP00000420717.1 |
Frequencies
GnomAD3 genomes AF: 0.0000331 AC: 5AN: 150914Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000197 AC: 31AN: 157384Hom.: 0 AF XY: 0.000132 AC XY: 11AN XY: 83240
GnomAD4 exome AF: 0.0000243 AC: 34AN: 1399054Hom.: 0 Cov.: 42 AF XY: 0.0000159 AC XY: 11AN XY: 690046
GnomAD4 genome AF: 0.0000331 AC: 5AN: 150914Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73558
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.8761G>A (p.D2921N) alteration is located in exon 55 (coding exon 54) of the DNAH12 gene. This alteration results from a G to A substitution at nucleotide position 8761, causing the aspartic acid (D) at amino acid position 2921 to be replaced by an asparagine (N). 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