rs1060499854
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_020877.5(DNAH2):c.4453G>C(p.Asp1485His) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. 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 (★).
Frequency
Consequence
NM_020877.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH2 | ENST00000572933.6 | c.4453G>C | p.Asp1485His | missense_variant | Exon 28 of 86 | 2 | NM_020877.5 | ENSP00000458355.1 | ||
DNAH2 | ENST00000389173.6 | c.4453G>C | p.Asp1485His | missense_variant | Exon 27 of 85 | 2 | ENSP00000373825.2 | |||
DNAH2 | ENST00000574518.1 | n.*829G>C | non_coding_transcript_exon_variant | Exon 9 of 22 | 2 | ENSP00000461273.1 | ||||
DNAH2 | ENST00000574518.1 | n.*829G>C | 3_prime_UTR_variant | Exon 9 of 22 | 2 | ENSP00000461273.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Candidate PCD gene - no second variant and not really consistent with patient phenotype. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at