rs12737248
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001367479.1(DNAH14):āc.12186T>Gā(p.Asn4062Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.517 in 1,550,736 control chromosomes in the GnomAD database, including 215,967 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/14 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
Genome browser will be placed here
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.12186T>G | p.Asn4062Lys | missense_variant | 77/86 | ENST00000682510.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH14 | ENST00000682510.1 | c.12186T>G | p.Asn4062Lys | missense_variant | 77/86 | NM_001367479.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.448 AC: 68157AN: 152014Hom.: 16910 Cov.: 33
GnomAD3 exomes AF: 0.461 AC: 71005AN: 154008Hom.: 17786 AF XY: 0.460 AC XY: 37576AN XY: 81738
GnomAD4 exome AF: 0.525 AC: 734272AN: 1398604Hom.: 199055 Cov.: 42 AF XY: 0.521 AC XY: 359341AN XY: 689818
GnomAD4 genome ? AF: 0.448 AC: 68169AN: 152132Hom.: 16912 Cov.: 33 AF XY: 0.445 AC XY: 33060AN XY: 74350
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