rs7535953
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001367479.1(DNAH14):c.11288G>A(p.Arg3763Lys) 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 1,539,904 control chromosomes in the GnomAD database, including 154,539 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 (★★).
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.11288G>A | p.Arg3763Lys | missense_variant | 71/86 | ENST00000682510.1 | NP_001354408.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH14 | ENST00000682510.1 | c.11288G>A | p.Arg3763Lys | missense_variant | 71/86 | NM_001367479.1 | ENSP00000508305.1 |
Frequencies
GnomAD3 genomes AF: 0.483 AC: 73297AN: 151754Hom.: 18321 Cov.: 31
GnomAD3 exomes AF: 0.463 AC: 69057AN: 149002Hom.: 16279 AF XY: 0.465 AC XY: 36866AN XY: 79214
GnomAD4 exome AF: 0.440 AC: 611174AN: 1388032Hom.: 136187 Cov.: 32 AF XY: 0.444 AC XY: 303773AN XY: 684808
GnomAD4 genome AF: 0.483 AC: 73375AN: 151872Hom.: 18352 Cov.: 31 AF XY: 0.478 AC XY: 35508AN XY: 74230
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