6-97146866-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001350599.2(MMS22L):c.3672G>T(p.Leu1224Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000579 in 1,555,248 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001350599.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MMS22L | NM_001350599.2 | c.3672G>T | p.Leu1224Phe | missense_variant | Exon 25 of 25 | ENST00000683635.1 | NP_001337528.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MMS22L | ENST00000683635.1 | c.3672G>T | p.Leu1224Phe | missense_variant | Exon 25 of 25 | NM_001350599.2 | ENSP00000508046.1 | |||
MMS22L | ENST00000275053.8 | c.3672G>T | p.Leu1224Phe | missense_variant | Exon 25 of 25 | 2 | ENSP00000275053.4 | |||
MMS22L | ENST00000369251.6 | c.3552G>T | p.Leu1184Phe | missense_variant | Exon 23 of 23 | 2 | ENSP00000358254.2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151930Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000570 AC: 8AN: 1403318Hom.: 0 Cov.: 28 AF XY: 0.00000573 AC XY: 4AN XY: 697872
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151930Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74194
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3672G>T (p.L1224F) alteration is located in exon 25 (coding exon 24) of the MMS22L gene. This alteration results from a G to T substitution at nucleotide position 3672, causing the leucine (L) at amino acid position 1224 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