6-95604873-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024641.4(MANEA):āc.701T>Cā(p.Met234Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000523 in 1,473,652 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M234V) has been classified as Uncertain significance.
Frequency
Consequence
NM_024641.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MANEA | NM_024641.4 | c.701T>C | p.Met234Thr | missense_variant | 4/5 | ENST00000358812.9 | |
MANEA | XM_005267147.4 | c.701T>C | p.Met234Thr | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MANEA | ENST00000358812.9 | c.701T>C | p.Met234Thr | missense_variant | 4/5 | 1 | NM_024641.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151940Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000552 AC: 73AN: 1321712Hom.: 0 Cov.: 21 AF XY: 0.0000380 AC XY: 25AN XY: 658242
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151940Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74222
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 02, 2022 | The c.701T>C (p.M234T) alteration is located in exon 4 (coding exon 3) of the MANEA gene. This alteration results from a T to C substitution at nucleotide position 701, causing the methionine (M) at amino acid position 234 to be replaced by a threonine (T). 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