chr3-57508411-A-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001366028.2(DNAH12):āc.672T>Gā(p.Asp224Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.191 in 1,605,692 control chromosomes in the GnomAD database, including 33,301 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_001366028.2 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 |
---|---|---|---|---|---|---|---|
DNAH12 | NM_001366028.2 | c.672T>G | p.Asp224Glu | missense_variant | 7/74 | ENST00000495027.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH12 | ENST00000495027.6 | c.672T>G | p.Asp224Glu | missense_variant | 7/74 | 5 | NM_001366028.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.255 AC: 38740AN: 151934Hom.: 6393 Cov.: 32
GnomAD3 exomes AF: 0.179 AC: 43599AN: 243238Hom.: 4871 AF XY: 0.176 AC XY: 23140AN XY: 131530
GnomAD4 exome AF: 0.184 AC: 267524AN: 1453640Hom.: 26891 Cov.: 32 AF XY: 0.183 AC XY: 132306AN XY: 722886
GnomAD4 genome AF: 0.255 AC: 38792AN: 152052Hom.: 6410 Cov.: 32 AF XY: 0.250 AC XY: 18554AN XY: 74352
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 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: Frequency - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at