3-109057451-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014429.4(MORC1):āc.1067A>Gā(p.Tyr356Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000686 in 1,457,500 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014429.4 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MORC1 | NM_014429.4 | c.1067A>G | p.Tyr356Cys | missense_variant | 13/28 | ENST00000232603.10 | NP_055244.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MORC1 | ENST00000232603.10 | c.1067A>G | p.Tyr356Cys | missense_variant | 13/28 | 1 | NM_014429.4 | ENSP00000232603 | P2 | |
MORC1 | ENST00000483760.1 | c.1067A>G | p.Tyr356Cys | missense_variant | 13/27 | 2 | ENSP00000417282 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000805 AC: 2AN: 248442Hom.: 0 AF XY: 0.00000745 AC XY: 1AN XY: 134262
GnomAD4 exome AF: 0.00000686 AC: 10AN: 1457500Hom.: 0 Cov.: 30 AF XY: 0.00000690 AC XY: 5AN XY: 724766
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 15, 2023 | The c.1067A>G (p.Y356C) alteration is located in exon 13 (coding exon 13) of the MORC1 gene. This alteration results from a A to G substitution at nucleotide position 1067, causing the tyrosine (Y) at amino acid position 356 to be replaced by a cysteine (C). 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