10-97616394-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_178832.4(MORN4):c.310G>A(p.Asp104Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,605,158 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178832.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MORN4 | NM_178832.4 | c.310G>A | p.Asp104Asn | missense_variant | Exon 5 of 5 | ENST00000307450.11 | NP_849154.1 | |
MORN4 | NM_001098831.2 | c.310G>A | p.Asp104Asn | missense_variant | Exon 5 of 5 | NP_001092301.1 | ||
MORN4 | XM_011539251.4 | c.310G>A | p.Asp104Asn | missense_variant | Exon 5 of 5 | XP_011537553.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MORN4 | ENST00000307450.11 | c.310G>A | p.Asp104Asn | missense_variant | Exon 5 of 5 | 1 | NM_178832.4 | ENSP00000307636.6 | ||
ENSG00000249967 | ENST00000370649.3 | c.345+14404C>T | intron_variant | Intron 2 of 9 | 2 | ENSP00000359683.3 | ||||
MORN4 | ENST00000478953.1 | c.200G>A | p.Ter67Ter | stop_retained_variant | Exon 4 of 4 | 2 | ENSP00000441070.1 |
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 152034Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000207 AC: 5AN: 241376Hom.: 0 AF XY: 0.0000153 AC XY: 2AN XY: 130736
GnomAD4 exome AF: 0.00000895 AC: 13AN: 1453006Hom.: 0 Cov.: 32 AF XY: 0.00000554 AC XY: 4AN XY: 722260
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152152Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.310G>A (p.D104N) alteration is located in exon 5 (coding exon 4) of the MORN4 gene. This alteration results from a G to A substitution at nucleotide position 310, causing the aspartic acid (D) at amino acid position 104 to be replaced by an asparagine (N). 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