17-7770610-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020877.5(DNAH2):c.4152C>T(p.Pro1384Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P1384P) has been classified as Benign.
Frequency
Consequence
NM_020877.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH2 | ENST00000572933.6 | c.4152C>T | p.Pro1384Pro | synonymous_variant | Exon 26 of 86 | 2 | NM_020877.5 | ENSP00000458355.1 | ||
DNAH2 | ENST00000389173.6 | c.4152C>T | p.Pro1384Pro | synonymous_variant | Exon 25 of 85 | 2 | ENSP00000373825.2 | |||
DNAH2 | ENST00000574518.1 | n.*415C>T | non_coding_transcript_exon_variant | Exon 8 of 22 | 2 | ENSP00000461273.1 | ||||
DNAH2 | ENST00000574518.1 | n.*415C>T | 3_prime_UTR_variant | Exon 8 of 22 | 2 | ENSP00000461273.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 37
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.