1-225079264-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001367479.1(DNAH14):āc.2482C>Gā(p.Leu828Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.918 in 1,547,610 control chromosomes in the GnomAD database, including 662,157 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_001367479.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH14 | NM_001367479.1 | c.2482C>G | p.Leu828Val | missense_variant | 18/86 | ENST00000682510.1 | NP_001354408.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH14 | ENST00000682510.1 | c.2482C>G | p.Leu828Val | missense_variant | 18/86 | NM_001367479.1 | ENSP00000508305.1 | |||
DNAH14 | ENST00000430092.5 | c.2482C>G | p.Leu828Val | missense_variant | 18/84 | 5 | ENSP00000414402.1 | |||
DNAH14 | ENST00000439375.6 | c.2482C>G | p.Leu828Val | missense_variant | 17/83 | 5 | ENSP00000392061.2 | |||
DNAH14 | ENST00000445597.6 | c.2284C>G | p.Leu762Val | missense_variant | 14/61 | 5 | ENSP00000409472.2 |
Frequencies
GnomAD3 genomes AF: 0.798 AC: 121258AN: 151968Hom.: 51730 Cov.: 31
GnomAD3 exomes AF: 0.870 AC: 133093AN: 153012Hom.: 59222 AF XY: 0.879 AC XY: 71214AN XY: 81030
GnomAD4 exome AF: 0.931 AC: 1298699AN: 1395524Hom.: 610409 Cov.: 50 AF XY: 0.931 AC XY: 640552AN XY: 688178
GnomAD4 genome AF: 0.798 AC: 121312AN: 152086Hom.: 51748 Cov.: 31 AF XY: 0.798 AC XY: 59301AN XY: 74346
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 28, 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: Frequency - |
not provided Benign:1
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at