rs571987789
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015512.5(DNAH1):c.3431G>A(p.Ser1144Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000203 in 1,611,696 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar. Synonymous variant affecting the same amino acid position (i.e. S1144S) has been classified as Likely benign.
Frequency
Consequence
NM_015512.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH1 | NM_015512.5 | c.3431G>A | p.Ser1144Asn | missense_variant | 20/78 | ENST00000420323.7 | |
DNAH1 | XM_017006129.2 | c.3431G>A | p.Ser1144Asn | missense_variant | 21/80 | ||
DNAH1 | XM_017006130.2 | c.3431G>A | p.Ser1144Asn | missense_variant | 21/79 | ||
DNAH1 | XM_017006131.2 | c.3431G>A | p.Ser1144Asn | missense_variant | 21/79 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH1 | ENST00000420323.7 | c.3431G>A | p.Ser1144Asn | missense_variant | 20/78 | 1 | NM_015512.5 | P1 | |
DNAH1 | ENST00000486752.5 | n.3692G>A | non_coding_transcript_exon_variant | 20/77 | 2 | ||||
DNAH1 | ENST00000497875.1 | n.3596G>A | non_coding_transcript_exon_variant | 21/21 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000145 AC: 22AN: 152226Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000229 AC: 56AN: 244074Hom.: 0 AF XY: 0.000234 AC XY: 31AN XY: 132548
GnomAD4 exome AF: 0.000210 AC: 306AN: 1459352Hom.: 1 Cov.: 31 AF XY: 0.000238 AC XY: 173AN XY: 725794
GnomAD4 genome ? AF: 0.000138 AC: 21AN: 152344Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 15, 2021 | The c.3431G>A (p.S1144N) alteration is located in exon 20 (coding exon 19) of the DNAH1 gene. This alteration results from a G to A substitution at nucleotide position 3431, causing the serine (S) at amino acid position 1144 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 29, 2016 | 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: c.3431_3432delinsAT (p.Ser1144Asn). Missense variant, not reported previously. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at