rs6667999
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001367479.1(DNAH14):āc.10699A>Gā(p.Lys3567Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.445 in 1,548,984 control chromosomes in the GnomAD database, including 155,635 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_001367479.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH14 | NM_001367479.1 | c.10699A>G | p.Lys3567Glu | missense_variant | 70/86 | ENST00000682510.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH14 | ENST00000682510.1 | c.10699A>G | p.Lys3567Glu | missense_variant | 70/86 | NM_001367479.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.483 AC: 73321AN: 151914Hom.: 18328 Cov.: 32
GnomAD3 exomes AF: 0.460 AC: 70904AN: 154222Hom.: 16694 AF XY: 0.462 AC XY: 37853AN XY: 81908
GnomAD4 exome AF: 0.441 AC: 615626AN: 1396952Hom.: 137276 Cov.: 37 AF XY: 0.444 AC XY: 305882AN XY: 689126
GnomAD4 genome ? AF: 0.483 AC: 73399AN: 152032Hom.: 18359 Cov.: 32 AF XY: 0.478 AC XY: 35513AN XY: 74322
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 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at