2-195738018-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_018897.3(DNAH7):c.11978C>T(p.Ser3993Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,613,940 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_018897.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH7 | NM_018897.3 | c.11978C>T | p.Ser3993Phe | missense_variant | 65/65 | ENST00000312428.11 | NP_061720.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH7 | ENST00000312428.11 | c.11978C>T | p.Ser3993Phe | missense_variant | 65/65 | 1 | NM_018897.3 | ENSP00000311273.6 | ||
DNAH7 | ENST00000409063.5 | c.1427C>T | p.Ser476Phe | missense_variant | 10/10 | 1 | ENSP00000386912.1 | |||
DNAH7 | ENST00000438565.1 | c.*109C>T | 3_prime_UTR_variant | 3/3 | 3 | ENSP00000409732.1 | ||||
DNAH7 | ENST00000484183.1 | n.476C>T | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249476Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135342
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1461778Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727198
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 04, 2024 | The c.11978C>T (p.S3993F) alteration is located in exon 65 (coding exon 65) of the DNAH7 gene. This alteration results from a C to T substitution at nucleotide position 11978, causing the serine (S) at amino acid position 3993 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at