rs61739897
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_015512.5(DNAH1):c.4263C>A(p.Pro1421=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000548 in 1,459,860 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P1421P) has been classified as Likely benign.
Frequency
Consequence
NM_015512.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.4263C>A | p.Pro1421= | synonymous_variant | 25/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.4263C>A | p.Pro1421= | synonymous_variant | 26/80 | ||
DNAH1 | XM_017006130.2 | c.4263C>A | p.Pro1421= | synonymous_variant | 26/79 | ||
DNAH1 | XM_017006131.2 | c.4263C>A | p.Pro1421= | synonymous_variant | 26/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.4263C>A | p.Pro1421= | synonymous_variant | 25/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.4524C>A | non_coding_transcript_exon_variant | 25/77 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1459860Hom.: 0 Cov.: 31 AF XY: 0.00000826 AC XY: 6AN XY: 726226
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at