chr2-195808809-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_018897.3(DNAH7):āc.9956T>Cā(p.Leu3319Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.994 in 1,613,984 control chromosomes in the GnomAD database, including 797,285 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_018897.3 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 | UniProt |
---|---|---|---|---|---|---|---|
DNAH7 | NM_018897.3 | c.9956T>C | p.Leu3319Pro | missense_variant | 53/65 | ENST00000312428.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH7 | ENST00000312428.11 | c.9956T>C | p.Leu3319Pro | missense_variant | 53/65 | 1 | NM_018897.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.966 AC: 147013AN: 152160Hom.: 71225 Cov.: 32
GnomAD3 exomes AF: 0.991 AC: 247140AN: 249300Hom.: 122597 AF XY: 0.993 AC XY: 134340AN XY: 135242
GnomAD4 exome AF: 0.997 AC: 1456599AN: 1461706Hom.: 726017 Cov.: 54 AF XY: 0.997 AC XY: 724902AN XY: 727146
GnomAD4 genome AF: 0.966 AC: 147115AN: 152278Hom.: 71268 Cov.: 32 AF XY: 0.967 AC XY: 72021AN XY: 74452
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 - |
DNAH7-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | May 08, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at