chr1-2591034-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033467.4(MMEL1):c.2296C>T(p.Arg766Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000235 in 1,605,784 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033467.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMEL1 | NM_033467.4 | c.2296C>T | p.Arg766Trp | missense_variant | 24/24 | ENST00000378412.8 | |
PRXL2B | NM_152371.5 | c.*1607G>A | 3_prime_UTR_variant | 7/7 | ENST00000419916.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMEL1 | ENST00000378412.8 | c.2296C>T | p.Arg766Trp | missense_variant | 24/24 | 2 | NM_033467.4 | P1 | |
PRXL2B | ENST00000419916.8 | c.*1607G>A | 3_prime_UTR_variant | 7/7 | 1 | NM_152371.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000171 AC: 26AN: 152248Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000888 AC: 21AN: 236460Hom.: 0 AF XY: 0.0000856 AC XY: 11AN XY: 128552
GnomAD4 exome AF: 0.000241 AC: 351AN: 1453418Hom.: 0 Cov.: 32 AF XY: 0.000237 AC XY: 171AN XY: 722422
GnomAD4 genome ? AF: 0.000171 AC: 26AN: 152366Hom.: 0 Cov.: 33 AF XY: 0.000161 AC XY: 12AN XY: 74510
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.2296C>T (p.R766W) alteration is located in exon 24 (coding exon 23) of the MMEL1 gene. This alteration results from a C to T substitution at nucleotide position 2296, causing the arginine (R) at amino acid position 766 to be replaced by a tryptophan (W). 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