chr2-195891811-G-GA
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_018897.3(DNAH7):c.4897-8_4897-7insT variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00028 ( 0 hom., cov: 0)
Exomes 𝑓: 0.00027 ( 0 hom. )
Consequence
DNAH7
NM_018897.3 splice_region, splice_polypyrimidine_tract, intron
NM_018897.3 splice_region, splice_polypyrimidine_tract, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.171
Genes affected
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH7 | NM_018897.3 | c.4897-8_4897-7insT | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000312428.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH7 | ENST00000312428.11 | c.4897-8_4897-7insT | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_018897.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000287 AC: 43AN: 149568Hom.: 0 Cov.: 0
GnomAD3 genomes
?
AF:
AC:
43
AN:
149568
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.000268 AC: 289AN: 1076414Hom.: 0 Cov.: 0 AF XY: 0.000266 AC XY: 142AN XY: 534322
GnomAD4 exome
AF:
AC:
289
AN:
1076414
Hom.:
Cov.:
0
AF XY:
AC XY:
142
AN XY:
534322
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome ? AF: 0.000281 AC: 42AN: 149678Hom.: 0 Cov.: 0 AF XY: 0.000246 AC XY: 18AN XY: 73038
GnomAD4 genome
?
AF:
AC:
42
AN:
149678
Hom.:
Cov.:
0
AF XY:
AC XY:
18
AN XY:
73038
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at